Name: rs376457710
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs376457710

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:22902057-22902075 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(CAG)₃ / del(CAG)₂ / delCAG / d…
del(CAG)₃ / del(CAG)₂ / delCAG / dupCAG / dup(CAG)₂
Variation Type: Indel Insertion and Deletion
Frequency: dupCAG=0.01340 (363/27084, ALFA)
dupCAG=0.01038 (174/16760, 8.3KJPN)
dupCAG=0.0188 (84/4472, Estonian) (+ 2 more)
dupCAG=0.022 (13/600, NorthernSweden)
dupCAG=0.03 (1/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RBM23 : Inframe Deletion
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	27084	GCAGCAGCAGCAGCAGCAG=0.98361	GCAGCAGCAG=0.00000, GCAGCAGCAGCAG=0.00007, GCAGCAGCAGCAGCAG=0.00292, GCAGCAGCAGCAGCAGCAGCAG=0.01340, GCAGCAGCAGCAGCAGCAGCAGCAG=0.00000	0.973324	0.000297	0.026378	1
European	Sub	19835	GCAGCAGCAGCAGCAGCAG=0.98321	GCAGCAGCAG=0.00000, GCAGCAGCAGCAG=0.00000, GCAGCAGCAGCAGCAG=0.00247, GCAGCAGCAGCAGCAGCAGCAG=0.01432, GCAGCAGCAGCAGCAGCAGCAGCAG=0.00000	0.971518	0.000304	0.028178	0
African	Sub	3476	GCAGCAGCAGCAGCAGCAG=0.9951	GCAGCAGCAG=0.0000, GCAGCAGCAGCAG=0.0000, GCAGCAGCAGCAGCAG=0.0020, GCAGCAGCAGCAGCAGCAGCAG=0.0029, GCAGCAGCAGCAGCAGCAGCAGCAG=0.0000	0.994223	0.0	0.005777	0
African Others	Sub	120	GCAGCAGCAGCAGCAGCAG=1.000	GCAGCAGCAG=0.000, GCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAGCAGCAGCAG=0.000	1.0	0.0	0.0	N/A
African American	Sub	3356	GCAGCAGCAGCAGCAGCAG=0.9949	GCAGCAGCAG=0.0000, GCAGCAGCAGCAG=0.0000, GCAGCAGCAGCAGCAG=0.0021, GCAGCAGCAGCAGCAGCAGCAG=0.0030, GCAGCAGCAGCAGCAGCAGCAGCAG=0.0000	0.994016	0.0	0.005984	0
Asian	Sub	168	GCAGCAGCAGCAGCAGCAG=0.988	GCAGCAGCAG=0.000, GCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAG=0.012, GCAGCAGCAGCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAGCAGCAGCAG=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	112	GCAGCAGCAGCAGCAGCAG=1.000	GCAGCAGCAG=0.000, GCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAGCAGCAGCAG=0.000	1.0	0.0	0.0	N/A
Other Asian	Sub	56	GCAGCAGCAGCAGCAGCAG=0.96	GCAGCAGCAG=0.00, GCAGCAGCAGCAG=0.00, GCAGCAGCAGCAGCAG=0.04, GCAGCAGCAGCAGCAGCAGCAG=0.00, GCAGCAGCAGCAGCAGCAGCAGCAG=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	144	GCAGCAGCAGCAGCAGCAG=1.000	GCAGCAGCAG=0.000, GCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAGCAGCAGCAG=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	592	GCAGCAGCAGCAGCAGCAG=1.000	GCAGCAGCAG=0.000, GCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAGCAGCAG=0.000, GCAGCAGCAGCAGCAGCAGCAGCAG=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	92	GCAGCAGCAGCAGCAGCAG=1.00	GCAGCAGCAG=0.00, GCAGCAGCAGCAG=0.00, GCAGCAGCAGCAGCAG=0.00, GCAGCAGCAGCAGCAGCAGCAG=0.00, GCAGCAGCAGCAGCAGCAGCAGCAG=0.00	1.0	0.0	0.0	N/A
Other	Sub	2777	GCAGCAGCAGCAGCAGCAG=0.9669	GCAGCAGCAG=0.0000, GCAGCAGCAGCAG=0.0007, GCAGCAGCAGCAGCAG=0.0076, GCAGCAGCAGCAGCAGCAGCAG=0.0248, GCAGCAGCAGCAGCAGCAGCAGCAG=0.0000	0.950183	0.000733	0.049084	0

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	27084	(GCA)₆G=0.98361	del(CAG)₃=0.00000, del(CAG)₂=0.00007, delCAG=0.00292, dupCAG=0.01340, dup(CAG)₂=0.00000
Allele Frequency Aggregator	European	Sub	19835	(GCA)₆G=0.98321	del(CAG)₃=0.00000, del(CAG)₂=0.00000, delCAG=0.00247, dupCAG=0.01432, dup(CAG)₂=0.00000
Allele Frequency Aggregator	African	Sub	3476	(GCA)₆G=0.9951	del(CAG)₃=0.0000, del(CAG)₂=0.0000, delCAG=0.0020, dupCAG=0.0029, dup(CAG)₂=0.0000
Allele Frequency Aggregator	Other	Sub	2777	(GCA)₆G=0.9669	del(CAG)₃=0.0000, del(CAG)₂=0.0007, delCAG=0.0076, dupCAG=0.0248, dup(CAG)₂=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	592	(GCA)₆G=1.000	del(CAG)₃=0.000, del(CAG)₂=0.000, delCAG=0.000, dupCAG=0.000, dup(CAG)₂=0.000
Allele Frequency Aggregator	Asian	Sub	168	(GCA)₆G=0.988	del(CAG)₃=0.000, del(CAG)₂=0.000, delCAG=0.012, dupCAG=0.000, dup(CAG)₂=0.000
Allele Frequency Aggregator	Latin American 1	Sub	144	(GCA)₆G=1.000	del(CAG)₃=0.000, del(CAG)₂=0.000, delCAG=0.000, dupCAG=0.000, dup(CAG)₂=0.000
Allele Frequency Aggregator	South Asian	Sub	92	(GCA)₆G=1.00	del(CAG)₃=0.00, del(CAG)₂=0.00, delCAG=0.00, dupCAG=0.00, dup(CAG)₂=0.00
8.3KJPN	JAPANESE	Study-wide	16760	- No frequency provided	dupCAG=0.01038
Genetic variation in the Estonian population	Estonian	Study-wide	4472	- No frequency provided	dupCAG=0.0188
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupCAG=0.022
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupCAG=0.03

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 14	NC_000014.9:g.22902058CAG[3]
GRCh38.p14 chr 14	NC_000014.9:g.22902058CAG[4]
GRCh38.p14 chr 14	NC_000014.9:g.22902058CAG[5]
GRCh38.p14 chr 14	NC_000014.9:g.22902058CAG[7]
GRCh38.p14 chr 14	NC_000014.9:g.22902058CAG[8]
GRCh37.p13 chr 14	NC_000014.8:g.23371267CAG[3]
GRCh37.p13 chr 14	NC_000014.8:g.23371267CAG[4]
GRCh37.p13 chr 14	NC_000014.8:g.23371267CAG[5]
GRCh37.p13 chr 14	NC_000014.8:g.23371267CAG[7]
GRCh37.p13 chr 14	NC_000014.8:g.23371267CAG[8]

Gene: RBM23, RNA binding motif protein 23 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RBM23 transcript variant 1	NM_001077351.2:c.1152TGC[… NM_001077351.2:c.1152TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001070819.1:p.Ala391_A… NP_001070819.1:p.Ala391_Ala393del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 1	NM_001077351.2:c.1152TGC[… NM_001077351.2:c.1152TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001070819.1:p.Ala392_A… NP_001070819.1:p.Ala392_Ala393del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 1	NM_001077351.2:c.1152TGC[… NM_001077351.2:c.1152TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001070819.1:p.Ala393del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 1	NM_001077351.2:c.1152TGC[… NM_001077351.2:c.1152TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001070819.1:p.Ala393dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 1	NM_001077351.2:c.1152TGC[… NM_001077351.2:c.1152TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001070819.1:p.Ala392_A… NP_001070819.1:p.Ala392_Ala393dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 2	NM_018107.5:c.1104TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 2	NP_060577.3:p.Ala375_Ala3… NP_060577.3:p.Ala375_Ala377del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 2	NM_018107.5:c.1104TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 2	NP_060577.3:p.Ala376_Ala3… NP_060577.3:p.Ala376_Ala377del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 2	NM_018107.5:c.1104TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 2	NP_060577.3:p.Ala377del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 2	NM_018107.5:c.1104TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 2	NP_060577.3:p.Ala377dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 2	NM_018107.5:c.1104TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 2	NP_060577.3:p.Ala376_Ala3… NP_060577.3:p.Ala376_Ala377dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 6	NM_001352763.2:c.1152TGC[… NM_001352763.2:c.1152TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001339692.1:p.Ala391_A… NP_001339692.1:p.Ala391_Ala393del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 6	NM_001352763.2:c.1152TGC[… NM_001352763.2:c.1152TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001339692.1:p.Ala392_A… NP_001339692.1:p.Ala392_Ala393del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 6	NM_001352763.2:c.1152TGC[… NM_001352763.2:c.1152TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001339692.1:p.Ala393del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 6	NM_001352763.2:c.1152TGC[… NM_001352763.2:c.1152TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001339692.1:p.Ala393dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 6	NM_001352763.2:c.1152TGC[… NM_001352763.2:c.1152TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001339692.1:p.Ala392_A… NP_001339692.1:p.Ala392_Ala393dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 4	NM_001308044.2:c.642TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 4	NP_001294973.1:p.Ala221_A… NP_001294973.1:p.Ala221_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 4	NM_001308044.2:c.642TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 4	NP_001294973.1:p.Ala222_A… NP_001294973.1:p.Ala222_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 4	NM_001308044.2:c.642TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 4	NP_001294973.1:p.Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 4	NM_001308044.2:c.642TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 4	NP_001294973.1:p.Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 4	NM_001308044.2:c.642TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 4	NP_001294973.1:p.Ala222_A… NP_001294973.1:p.Ala222_Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 8	NM_001352765.2:c.1104TGC[… NM_001352765.2:c.1104TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 2	NP_001339694.1:p.Ala375_A… NP_001339694.1:p.Ala375_Ala377del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 8	NM_001352765.2:c.1104TGC[… NM_001352765.2:c.1104TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 2	NP_001339694.1:p.Ala376_A… NP_001339694.1:p.Ala376_Ala377del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 8	NM_001352765.2:c.1104TGC[… NM_001352765.2:c.1104TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 2	NP_001339694.1:p.Ala377del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 8	NM_001352765.2:c.1104TGC[… NM_001352765.2:c.1104TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 2	NP_001339694.1:p.Ala377dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 8	NM_001352765.2:c.1104TGC[… NM_001352765.2:c.1104TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 2	NP_001339694.1:p.Ala376_A… NP_001339694.1:p.Ala376_Ala377dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 3	NM_001077352.2:c.1050TGC[… NM_001077352.2:c.1050TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 3	NP_001070820.1:p.Ala357_A… NP_001070820.1:p.Ala357_Ala359del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 3	NM_001077352.2:c.1050TGC[… NM_001077352.2:c.1050TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 3	NP_001070820.1:p.Ala358_A… NP_001070820.1:p.Ala358_Ala359del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 3	NM_001077352.2:c.1050TGC[… NM_001077352.2:c.1050TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 3	NP_001070820.1:p.Ala359del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 3	NM_001077352.2:c.1050TGC[… NM_001077352.2:c.1050TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 3	NP_001070820.1:p.Ala359dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 3	NM_001077352.2:c.1050TGC[… NM_001077352.2:c.1050TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 3	NP_001070820.1:p.Ala358_A… NP_001070820.1:p.Ala358_Ala359dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 7	NM_001352764.2:c.1284TGC[… NM_001352764.2:c.1284TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 5	NP_001339693.1:p.Ala435_A… NP_001339693.1:p.Ala435_Ala437del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 7	NM_001352764.2:c.1284TGC[… NM_001352764.2:c.1284TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 5	NP_001339693.1:p.Ala436_A… NP_001339693.1:p.Ala436_Ala437del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 7	NM_001352764.2:c.1284TGC[… NM_001352764.2:c.1284TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 5	NP_001339693.1:p.Ala437del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 7	NM_001352764.2:c.1284TGC[… NM_001352764.2:c.1284TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 5	NP_001339693.1:p.Ala437dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 7	NM_001352764.2:c.1284TGC[… NM_001352764.2:c.1284TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 5	NP_001339693.1:p.Ala436_A… NP_001339693.1:p.Ala436_Ala437dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 5	NM_001352762.2:c.642TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 4	NP_001339691.1:p.Ala221_A… NP_001339691.1:p.Ala221_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 5	NM_001352762.2:c.642TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 4	NP_001339691.1:p.Ala222_A… NP_001339691.1:p.Ala222_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 5	NM_001352762.2:c.642TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 4	NP_001339691.1:p.Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 5	NM_001352762.2:c.642TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 4	NP_001339691.1:p.Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 5	NM_001352762.2:c.642TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 4	NP_001339691.1:p.Ala222_A… NP_001339691.1:p.Ala222_Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 9	NM_001352766.2:c.1152TGC[… NM_001352766.2:c.1152TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001339695.1:p.Ala391_A… NP_001339695.1:p.Ala391_Ala393del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 9	NM_001352766.2:c.1152TGC[… NM_001352766.2:c.1152TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001339695.1:p.Ala392_A… NP_001339695.1:p.Ala392_Ala393del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 9	NM_001352766.2:c.1152TGC[… NM_001352766.2:c.1152TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001339695.1:p.Ala393del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant 9	NM_001352766.2:c.1152TGC[… NM_001352766.2:c.1152TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001339695.1:p.Ala393dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant 9	NM_001352766.2:c.1152TGC[… NM_001352766.2:c.1152TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform 1	NP_001339695.1:p.Ala392_A… NP_001339695.1:p.Ala392_Ala393dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X7	XM_024449644.2:c.	N/A	Genic Downstream Transcript Variant
RBM23 transcript variant X5	XM_011536896.3:c.1182TGC[… XM_011536896.3:c.1182TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X5	XP_011535198.1:p.Ala401_A… XP_011535198.1:p.Ala401_Ala403del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X5	XM_011536896.3:c.1182TGC[… XM_011536896.3:c.1182TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X5	XP_011535198.1:p.Ala402_A… XP_011535198.1:p.Ala402_Ala403del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X5	XM_011536896.3:c.1182TGC[… XM_011536896.3:c.1182TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X5	XP_011535198.1:p.Ala403del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X5	XM_011536896.3:c.1182TGC[… XM_011536896.3:c.1182TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X5	XP_011535198.1:p.Ala403dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X5	XM_011536896.3:c.1182TGC[… XM_011536896.3:c.1182TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X5	XP_011535198.1:p.Ala402_A… XP_011535198.1:p.Ala402_Ala403dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X1	XM_011536892.3:c.1236TGC[… XM_011536892.3:c.1236TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X1	XP_011535194.1:p.Ala419_A… XP_011535194.1:p.Ala419_Ala421del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X1	XM_011536892.3:c.1236TGC[… XM_011536892.3:c.1236TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X1	XP_011535194.1:p.Ala420_A… XP_011535194.1:p.Ala420_Ala421del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X1	XM_011536892.3:c.1236TGC[… XM_011536892.3:c.1236TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X1	XP_011535194.1:p.Ala421del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X1	XM_011536892.3:c.1236TGC[… XM_011536892.3:c.1236TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X1	XP_011535194.1:p.Ala421dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X1	XM_011536892.3:c.1236TGC[… XM_011536892.3:c.1236TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X1	XP_011535194.1:p.Ala420_A… XP_011535194.1:p.Ala420_Ala421dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X2	XM_011536893.4:c.1236TGC[… XM_011536893.4:c.1236TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X2	XP_011535195.1:p.Ala419_A… XP_011535195.1:p.Ala419_Ala421del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X2	XM_011536893.4:c.1236TGC[… XM_011536893.4:c.1236TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X2	XP_011535195.1:p.Ala420_A… XP_011535195.1:p.Ala420_Ala421del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X2	XM_011536893.4:c.1236TGC[… XM_011536893.4:c.1236TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X2	XP_011535195.1:p.Ala421del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X2	XM_011536893.4:c.1236TGC[… XM_011536893.4:c.1236TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X2	XP_011535195.1:p.Ala421dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X2	XM_011536893.4:c.1236TGC[… XM_011536893.4:c.1236TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X2	XP_011535195.1:p.Ala420_A… XP_011535195.1:p.Ala420_Ala421dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X3	XM_011536894.3:c.1230TGC[… XM_011536894.3:c.1230TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X3	XP_011535196.1:p.Ala417_A… XP_011535196.1:p.Ala417_Ala419del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X3	XM_011536894.3:c.1230TGC[… XM_011536894.3:c.1230TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X3	XP_011535196.1:p.Ala418_A… XP_011535196.1:p.Ala418_Ala419del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X3	XM_011536894.3:c.1230TGC[… XM_011536894.3:c.1230TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X3	XP_011535196.1:p.Ala419del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X3	XM_011536894.3:c.1230TGC[… XM_011536894.3:c.1230TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X3	XP_011535196.1:p.Ala419dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X3	XM_011536894.3:c.1230TGC[… XM_011536894.3:c.1230TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X3	XP_011535196.1:p.Ala418_A… XP_011535196.1:p.Ala418_Ala419dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X4	XM_011536895.4:c.1182TGC[… XM_011536895.4:c.1182TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X4	XP_011535197.1:p.Ala401_A… XP_011535197.1:p.Ala401_Ala403del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X4	XM_011536895.4:c.1182TGC[… XM_011536895.4:c.1182TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X4	XP_011535197.1:p.Ala402_A… XP_011535197.1:p.Ala402_Ala403del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X4	XM_011536895.4:c.1182TGC[… XM_011536895.4:c.1182TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X4	XP_011535197.1:p.Ala403del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X4	XM_011536895.4:c.1182TGC[… XM_011536895.4:c.1182TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X4	XP_011535197.1:p.Ala403dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X4	XM_011536895.4:c.1182TGC[… XM_011536895.4:c.1182TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X4	XP_011535197.1:p.Ala402_A… XP_011535197.1:p.Ala402_Ala403dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X6	XM_011536897.3:c.1158TGC[… XM_011536897.3:c.1158TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X6	XP_011535199.1:p.Ala393_A… XP_011535199.1:p.Ala393_Ala395del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X6	XM_011536897.3:c.1158TGC[… XM_011536897.3:c.1158TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X6	XP_011535199.1:p.Ala394_A… XP_011535199.1:p.Ala394_Ala395del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X6	XM_011536897.3:c.1158TGC[… XM_011536897.3:c.1158TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X6	XP_011535199.1:p.Ala395del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X6	XM_011536897.3:c.1158TGC[… XM_011536897.3:c.1158TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X6	XP_011535199.1:p.Ala395dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X6	XM_011536897.3:c.1158TGC[… XM_011536897.3:c.1158TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X6	XP_011535199.1:p.Ala394_A… XP_011535199.1:p.Ala394_Ala395dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X8	XM_011536903.2:c.642TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535205.1:p.Ala221_A… XP_011535205.1:p.Ala221_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X8	XM_011536903.2:c.642TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535205.1:p.Ala222_A… XP_011535205.1:p.Ala222_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X8	XM_011536903.2:c.642TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535205.1:p.Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X8	XM_011536903.2:c.642TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535205.1:p.Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X8	XM_011536903.2:c.642TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535205.1:p.Ala222_A… XP_011535205.1:p.Ala222_Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X9	XM_011536906.2:c.642TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535208.1:p.Ala221_A… XP_011535208.1:p.Ala221_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X9	XM_011536906.2:c.642TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535208.1:p.Ala222_A… XP_011535208.1:p.Ala222_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X9	XM_011536906.2:c.642TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535208.1:p.Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X9	XM_011536906.2:c.642TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535208.1:p.Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X9	XM_011536906.2:c.642TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535208.1:p.Ala222_A… XP_011535208.1:p.Ala222_Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X10	XM_047431521.1:c.642TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_047287477.1:p.Ala221_A… XP_047287477.1:p.Ala221_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X10	XM_047431521.1:c.642TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_047287477.1:p.Ala222_A… XP_047287477.1:p.Ala222_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X10	XM_047431521.1:c.642TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_047287477.1:p.Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X10	XM_047431521.1:c.642TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_047287477.1:p.Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X10	XM_047431521.1:c.642TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_047287477.1:p.Ala222_A… XP_047287477.1:p.Ala222_Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X11	XM_011536902.2:c.642TGC[3]	AAAAAAAAA [GCTG] > AAAAAA [... AAAAAAAAA [GCTG] > AAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535204.1:p.Ala221_A… XP_011535204.1:p.Ala221_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X11	XM_011536902.2:c.642TGC[4]	AAAAAAAAA [GCTG] > AAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535204.1:p.Ala222_A… XP_011535204.1:p.Ala222_Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X11	XM_011536902.2:c.642TGC[5]	AAAAAAAAA [GCTG] > AAAAAAAA [... AAAAAAAAA [GCTG] > AAAAAAAA [GCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535204.1:p.Ala223del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
RBM23 transcript variant X11	XM_011536902.2:c.642TGC[7]	AAAAAAAAA [GCC] > AAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAA [GCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535204.1:p.Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
RBM23 transcript variant X11	XM_011536902.2:c.642TGC[8]	AAAAAAAAA [GCC] > AAAAAAAAAAA [... AAAAAAAAA [GCC] > AAAAAAAAAAA [GCTGCTGCC]	Coding Sequence Variant
probable RNA-binding protein 23 isoform X8	XP_011535204.1:p.Ala222_A… XP_011535204.1:p.Ala222_Ala223dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(GCA)₆G=	del(CAG)₃	del(CAG)₂	delCAG	dupCAG	dup(CAG)₂
GRCh38.p14 chr 14	NC_000014.9:g.22902057_22902075=	NC_000014.9:g.22902058CAG[3]	NC_000014.9:g.22902058CAG[4]	NC_000014.9:g.22902058CAG[5]	NC_000014.9:g.22902058CAG[7]	NC_000014.9:g.22902058CAG[8]
GRCh37.p13 chr 14	NC_000014.8:g.23371266_23371284=	NC_000014.8:g.23371267CAG[3]	NC_000014.8:g.23371267CAG[4]	NC_000014.8:g.23371267CAG[5]	NC_000014.8:g.23371267CAG[7]	NC_000014.8:g.23371267CAG[8]
RBM23 transcript variant 2	NM_018107.5:c.1103_1121=	NM_018107.5:c.1104TGC[3]	NM_018107.5:c.1104TGC[4]	NM_018107.5:c.1104TGC[5]	NM_018107.5:c.1104TGC[7]	NM_018107.5:c.1104TGC[8]
RBM23 transcript variant 2	NM_018107.4:c.1103_1121=	NM_018107.4:c.1104TGC[3]	NM_018107.4:c.1104TGC[4]	NM_018107.4:c.1104TGC[5]	NM_018107.4:c.1104TGC[7]	NM_018107.4:c.1104TGC[8]
RBM23 transcript variant X4	XM_011536895.4:c.1181_1199=	XM_011536895.4:c.1182TGC[3]	XM_011536895.4:c.1182TGC[4]	XM_011536895.4:c.1182TGC[5]	XM_011536895.4:c.1182TGC[7]	XM_011536895.4:c.1182TGC[8]
RBM23 transcript variant X22	XM_011536895.3:c.1181_1199=	XM_011536895.3:c.1182TGC[3]	XM_011536895.3:c.1182TGC[4]	XM_011536895.3:c.1182TGC[5]	XM_011536895.3:c.1182TGC[7]	XM_011536895.3:c.1182TGC[8]
RBM23 transcript variant X12	XM_011536895.2:c.1181_1199=	XM_011536895.2:c.1182TGC[3]	XM_011536895.2:c.1182TGC[4]	XM_011536895.2:c.1182TGC[5]	XM_011536895.2:c.1182TGC[7]	XM_011536895.2:c.1182TGC[8]
RBM23 transcript variant X6	XM_011536895.1:c.1181_1199=	XM_011536895.1:c.1182TGC[3]	XM_011536895.1:c.1182TGC[4]	XM_011536895.1:c.1182TGC[5]	XM_011536895.1:c.1182TGC[7]	XM_011536895.1:c.1182TGC[8]
RBM23 transcript variant X2	XM_011536893.4:c.1235_1253=	XM_011536893.4:c.1236TGC[3]	XM_011536893.4:c.1236TGC[4]	XM_011536893.4:c.1236TGC[5]	XM_011536893.4:c.1236TGC[7]	XM_011536893.4:c.1236TGC[8]
RBM23 transcript variant X8	XM_011536893.3:c.1235_1253=	XM_011536893.3:c.1236TGC[3]	XM_011536893.3:c.1236TGC[4]	XM_011536893.3:c.1236TGC[5]	XM_011536893.3:c.1236TGC[7]	XM_011536893.3:c.1236TGC[8]
RBM23 transcript variant X8	XM_011536893.2:c.1235_1253=	XM_011536893.2:c.1236TGC[3]	XM_011536893.2:c.1236TGC[4]	XM_011536893.2:c.1236TGC[5]	XM_011536893.2:c.1236TGC[7]	XM_011536893.2:c.1236TGC[8]
RBM23 transcript variant X4	XM_011536893.1:c.1235_1253=	XM_011536893.1:c.1236TGC[3]	XM_011536893.1:c.1236TGC[4]	XM_011536893.1:c.1236TGC[5]	XM_011536893.1:c.1236TGC[7]	XM_011536893.1:c.1236TGC[8]
RBM23 transcript variant X6	XM_011536897.3:c.1157_1175=	XM_011536897.3:c.1158TGC[3]	XM_011536897.3:c.1158TGC[4]	XM_011536897.3:c.1158TGC[5]	XM_011536897.3:c.1158TGC[7]	XM_011536897.3:c.1158TGC[8]
RBM23 transcript variant X17	XM_011536897.2:c.1157_1175=	XM_011536897.2:c.1158TGC[3]	XM_011536897.2:c.1158TGC[4]	XM_011536897.2:c.1158TGC[5]	XM_011536897.2:c.1158TGC[7]	XM_011536897.2:c.1158TGC[8]
RBM23 transcript variant X8	XM_011536897.1:c.1157_1175=	XM_011536897.1:c.1158TGC[3]	XM_011536897.1:c.1158TGC[4]	XM_011536897.1:c.1158TGC[5]	XM_011536897.1:c.1158TGC[7]	XM_011536897.1:c.1158TGC[8]
RBM23 transcript variant X1	XM_011536892.3:c.1235_1253=	XM_011536892.3:c.1236TGC[3]	XM_011536892.3:c.1236TGC[4]	XM_011536892.3:c.1236TGC[5]	XM_011536892.3:c.1236TGC[7]	XM_011536892.3:c.1236TGC[8]
RBM23 transcript variant X16	XM_011536892.2:c.1235_1253=	XM_011536892.2:c.1236TGC[3]	XM_011536892.2:c.1236TGC[4]	XM_011536892.2:c.1236TGC[5]	XM_011536892.2:c.1236TGC[7]	XM_011536892.2:c.1236TGC[8]
RBM23 transcript variant X3	XM_011536892.1:c.1235_1253=	XM_011536892.1:c.1236TGC[3]	XM_011536892.1:c.1236TGC[4]	XM_011536892.1:c.1236TGC[5]	XM_011536892.1:c.1236TGC[7]	XM_011536892.1:c.1236TGC[8]
RBM23 transcript variant X3	XM_011536894.3:c.1229_1247=	XM_011536894.3:c.1230TGC[3]	XM_011536894.3:c.1230TGC[4]	XM_011536894.3:c.1230TGC[5]	XM_011536894.3:c.1230TGC[7]	XM_011536894.3:c.1230TGC[8]
RBM23 transcript variant X20	XM_011536894.2:c.1229_1247=	XM_011536894.2:c.1230TGC[3]	XM_011536894.2:c.1230TGC[4]	XM_011536894.2:c.1230TGC[5]	XM_011536894.2:c.1230TGC[7]	XM_011536894.2:c.1230TGC[8]
RBM23 transcript variant X5	XM_011536894.1:c.1229_1247=	XM_011536894.1:c.1230TGC[3]	XM_011536894.1:c.1230TGC[4]	XM_011536894.1:c.1230TGC[5]	XM_011536894.1:c.1230TGC[7]	XM_011536894.1:c.1230TGC[8]
RBM23 transcript variant X5	XM_011536896.3:c.1181_1199=	XM_011536896.3:c.1182TGC[3]	XM_011536896.3:c.1182TGC[4]	XM_011536896.3:c.1182TGC[5]	XM_011536896.3:c.1182TGC[7]	XM_011536896.3:c.1182TGC[8]
RBM23 transcript variant X13	XM_011536896.2:c.1181_1199=	XM_011536896.2:c.1182TGC[3]	XM_011536896.2:c.1182TGC[4]	XM_011536896.2:c.1182TGC[5]	XM_011536896.2:c.1182TGC[7]	XM_011536896.2:c.1182TGC[8]
RBM23 transcript variant X7	XM_011536896.1:c.1181_1199=	XM_011536896.1:c.1182TGC[3]	XM_011536896.1:c.1182TGC[4]	XM_011536896.1:c.1182TGC[5]	XM_011536896.1:c.1182TGC[7]	XM_011536896.1:c.1182TGC[8]
RBM23 transcript variant 9	NM_001352766.2:c.1151_1169=	NM_001352766.2:c.1152TGC[3]	NM_001352766.2:c.1152TGC[4]	NM_001352766.2:c.1152TGC[5]	NM_001352766.2:c.1152TGC[7]	NM_001352766.2:c.1152TGC[8]
RBM23 transcript variant 9	NM_001352766.1:c.1151_1169=	NM_001352766.1:c.1152TGC[3]	NM_001352766.1:c.1152TGC[4]	NM_001352766.1:c.1152TGC[5]	NM_001352766.1:c.1152TGC[7]	NM_001352766.1:c.1152TGC[8]
RBM23 transcript variant 5	NM_001352762.2:c.641_659=	NM_001352762.2:c.642TGC[3]	NM_001352762.2:c.642TGC[4]	NM_001352762.2:c.642TGC[5]	NM_001352762.2:c.642TGC[7]	NM_001352762.2:c.642TGC[8]
RBM23 transcript variant 5	NM_001352762.1:c.641_659=	NM_001352762.1:c.642TGC[3]	NM_001352762.1:c.642TGC[4]	NM_001352762.1:c.642TGC[5]	NM_001352762.1:c.642TGC[7]	NM_001352762.1:c.642TGC[8]
RBM23 transcript variant 7	NM_001352764.2:c.1283_1301=	NM_001352764.2:c.1284TGC[3]	NM_001352764.2:c.1284TGC[4]	NM_001352764.2:c.1284TGC[5]	NM_001352764.2:c.1284TGC[7]	NM_001352764.2:c.1284TGC[8]
RBM23 transcript variant 7	NM_001352764.1:c.1283_1301=	NM_001352764.1:c.1284TGC[3]	NM_001352764.1:c.1284TGC[4]	NM_001352764.1:c.1284TGC[5]	NM_001352764.1:c.1284TGC[7]	NM_001352764.1:c.1284TGC[8]
RBM23 transcript variant 6	NM_001352763.2:c.1151_1169=	NM_001352763.2:c.1152TGC[3]	NM_001352763.2:c.1152TGC[4]	NM_001352763.2:c.1152TGC[5]	NM_001352763.2:c.1152TGC[7]	NM_001352763.2:c.1152TGC[8]
RBM23 transcript variant 6	NM_001352763.1:c.1151_1169=	NM_001352763.1:c.1152TGC[3]	NM_001352763.1:c.1152TGC[4]	NM_001352763.1:c.1152TGC[5]	NM_001352763.1:c.1152TGC[7]	NM_001352763.1:c.1152TGC[8]
RBM23 transcript variant 8	NM_001352765.2:c.1103_1121=	NM_001352765.2:c.1104TGC[3]	NM_001352765.2:c.1104TGC[4]	NM_001352765.2:c.1104TGC[5]	NM_001352765.2:c.1104TGC[7]	NM_001352765.2:c.1104TGC[8]
RBM23 transcript variant 8	NM_001352765.1:c.1103_1121=	NM_001352765.1:c.1104TGC[3]	NM_001352765.1:c.1104TGC[4]	NM_001352765.1:c.1104TGC[5]	NM_001352765.1:c.1104TGC[7]	NM_001352765.1:c.1104TGC[8]
RBM23 transcript variant 1	NM_001077351.2:c.1151_1169=	NM_001077351.2:c.1152TGC[3]	NM_001077351.2:c.1152TGC[4]	NM_001077351.2:c.1152TGC[5]	NM_001077351.2:c.1152TGC[7]	NM_001077351.2:c.1152TGC[8]
RBM23 transcript variant 1	NM_001077351.1:c.1151_1169=	NM_001077351.1:c.1152TGC[3]	NM_001077351.1:c.1152TGC[4]	NM_001077351.1:c.1152TGC[5]	NM_001077351.1:c.1152TGC[7]	NM_001077351.1:c.1152TGC[8]
RBM23 transcript variant 3	NM_001077352.2:c.1049_1067=	NM_001077352.2:c.1050TGC[3]	NM_001077352.2:c.1050TGC[4]	NM_001077352.2:c.1050TGC[5]	NM_001077352.2:c.1050TGC[7]	NM_001077352.2:c.1050TGC[8]
RBM23 transcript variant 3	NM_001077352.1:c.1049_1067=	NM_001077352.1:c.1050TGC[3]	NM_001077352.1:c.1050TGC[4]	NM_001077352.1:c.1050TGC[5]	NM_001077352.1:c.1050TGC[7]	NM_001077352.1:c.1050TGC[8]
RBM23 transcript variant X11	XM_011536902.2:c.641_659=	XM_011536902.2:c.642TGC[3]	XM_011536902.2:c.642TGC[4]	XM_011536902.2:c.642TGC[5]	XM_011536902.2:c.642TGC[7]	XM_011536902.2:c.642TGC[8]
RBM23 transcript variant X34	XM_011536902.1:c.641_659=	XM_011536902.1:c.642TGC[3]	XM_011536902.1:c.642TGC[4]	XM_011536902.1:c.642TGC[5]	XM_011536902.1:c.642TGC[7]	XM_011536902.1:c.642TGC[8]
RBM23 transcript variant 4	NM_001308044.2:c.641_659=	NM_001308044.2:c.642TGC[3]	NM_001308044.2:c.642TGC[4]	NM_001308044.2:c.642TGC[5]	NM_001308044.2:c.642TGC[7]	NM_001308044.2:c.642TGC[8]
RBM23 transcript variant 4	NM_001308044.1:c.641_659=	NM_001308044.1:c.642TGC[3]	NM_001308044.1:c.642TGC[4]	NM_001308044.1:c.642TGC[5]	NM_001308044.1:c.642TGC[7]	NM_001308044.1:c.642TGC[8]
RBM23 transcript variant X8	XM_011536903.2:c.641_659=	XM_011536903.2:c.642TGC[3]	XM_011536903.2:c.642TGC[4]	XM_011536903.2:c.642TGC[5]	XM_011536903.2:c.642TGC[7]	XM_011536903.2:c.642TGC[8]
RBM23 transcript variant X35	XM_011536903.1:c.641_659=	XM_011536903.1:c.642TGC[3]	XM_011536903.1:c.642TGC[4]	XM_011536903.1:c.642TGC[5]	XM_011536903.1:c.642TGC[7]	XM_011536903.1:c.642TGC[8]
RBM23 transcript variant X9	XM_011536906.2:c.641_659=	XM_011536906.2:c.642TGC[3]	XM_011536906.2:c.642TGC[4]	XM_011536906.2:c.642TGC[5]	XM_011536906.2:c.642TGC[7]	XM_011536906.2:c.642TGC[8]
RBM23 transcript variant X38	XM_011536906.1:c.641_659=	XM_011536906.1:c.642TGC[3]	XM_011536906.1:c.642TGC[4]	XM_011536906.1:c.642TGC[5]	XM_011536906.1:c.642TGC[7]	XM_011536906.1:c.642TGC[8]
RBM23 transcript variant X10	XM_047431521.1:c.641_659=	XM_047431521.1:c.642TGC[3]	XM_047431521.1:c.642TGC[4]	XM_047431521.1:c.642TGC[5]	XM_047431521.1:c.642TGC[7]	XM_047431521.1:c.642TGC[8]
probable RNA-binding protein 23 isoform 2	NP_060577.3:p.Thr368_Ala374=	NP_060577.3:p.Ala375_Ala377del	NP_060577.3:p.Ala376_Ala377del	NP_060577.3:p.Ala377del	NP_060577.3:p.Ala377dup	NP_060577.3:p.Ala376_Ala377dup
probable RNA-binding protein 23 isoform X4	XP_011535197.1:p.Thr394_Ala400=	XP_011535197.1:p.Ala401_Ala403del	XP_011535197.1:p.Ala402_Ala403del	XP_011535197.1:p.Ala403del	XP_011535197.1:p.Ala403dup	XP_011535197.1:p.Ala402_Ala403dup
probable RNA-binding protein 23 isoform X2	XP_011535195.1:p.Thr412_Ala418=	XP_011535195.1:p.Ala419_Ala421del	XP_011535195.1:p.Ala420_Ala421del	XP_011535195.1:p.Ala421del	XP_011535195.1:p.Ala421dup	XP_011535195.1:p.Ala420_Ala421dup
probable RNA-binding protein 23 isoform X6	XP_011535199.1:p.Thr386_Ala392=	XP_011535199.1:p.Ala393_Ala395del	XP_011535199.1:p.Ala394_Ala395del	XP_011535199.1:p.Ala395del	XP_011535199.1:p.Ala395dup	XP_011535199.1:p.Ala394_Ala395dup
probable RNA-binding protein 23 isoform X1	XP_011535194.1:p.Thr412_Ala418=	XP_011535194.1:p.Ala419_Ala421del	XP_011535194.1:p.Ala420_Ala421del	XP_011535194.1:p.Ala421del	XP_011535194.1:p.Ala421dup	XP_011535194.1:p.Ala420_Ala421dup
probable RNA-binding protein 23 isoform X3	XP_011535196.1:p.Thr410_Ala416=	XP_011535196.1:p.Ala417_Ala419del	XP_011535196.1:p.Ala418_Ala419del	XP_011535196.1:p.Ala419del	XP_011535196.1:p.Ala419dup	XP_011535196.1:p.Ala418_Ala419dup
probable RNA-binding protein 23 isoform X5	XP_011535198.1:p.Thr394_Ala400=	XP_011535198.1:p.Ala401_Ala403del	XP_011535198.1:p.Ala402_Ala403del	XP_011535198.1:p.Ala403del	XP_011535198.1:p.Ala403dup	XP_011535198.1:p.Ala402_Ala403dup
probable RNA-binding protein 23 isoform 1	NP_001339695.1:p.Thr384_Ala390=	NP_001339695.1:p.Ala391_Ala393del	NP_001339695.1:p.Ala392_Ala393del	NP_001339695.1:p.Ala393del	NP_001339695.1:p.Ala393dup	NP_001339695.1:p.Ala392_Ala393dup
probable RNA-binding protein 23 isoform 4	NP_001339691.1:p.Thr214_Ala220=	NP_001339691.1:p.Ala221_Ala223del	NP_001339691.1:p.Ala222_Ala223del	NP_001339691.1:p.Ala223del	NP_001339691.1:p.Ala223dup	NP_001339691.1:p.Ala222_Ala223dup
probable RNA-binding protein 23 isoform 5	NP_001339693.1:p.Thr428_Ala434=	NP_001339693.1:p.Ala435_Ala437del	NP_001339693.1:p.Ala436_Ala437del	NP_001339693.1:p.Ala437del	NP_001339693.1:p.Ala437dup	NP_001339693.1:p.Ala436_Ala437dup
probable RNA-binding protein 23 isoform 1	NP_001339692.1:p.Thr384_Ala390=	NP_001339692.1:p.Ala391_Ala393del	NP_001339692.1:p.Ala392_Ala393del	NP_001339692.1:p.Ala393del	NP_001339692.1:p.Ala393dup	NP_001339692.1:p.Ala392_Ala393dup
probable RNA-binding protein 23 isoform 2	NP_001339694.1:p.Thr368_Ala374=	NP_001339694.1:p.Ala375_Ala377del	NP_001339694.1:p.Ala376_Ala377del	NP_001339694.1:p.Ala377del	NP_001339694.1:p.Ala377dup	NP_001339694.1:p.Ala376_Ala377dup
probable RNA-binding protein 23 isoform 1	NP_001070819.1:p.Thr384_Ala390=	NP_001070819.1:p.Ala391_Ala393del	NP_001070819.1:p.Ala392_Ala393del	NP_001070819.1:p.Ala393del	NP_001070819.1:p.Ala393dup	NP_001070819.1:p.Ala392_Ala393dup
probable RNA-binding protein 23 isoform 3	NP_001070820.1:p.Thr350_Ala356=	NP_001070820.1:p.Ala357_Ala359del	NP_001070820.1:p.Ala358_Ala359del	NP_001070820.1:p.Ala359del	NP_001070820.1:p.Ala359dup	NP_001070820.1:p.Ala358_Ala359dup
probable RNA-binding protein 23 isoform X8	XP_011535204.1:p.Thr214_Ala220=	XP_011535204.1:p.Ala221_Ala223del	XP_011535204.1:p.Ala222_Ala223del	XP_011535204.1:p.Ala223del	XP_011535204.1:p.Ala223dup	XP_011535204.1:p.Ala222_Ala223dup
probable RNA-binding protein 23 isoform 4	NP_001294973.1:p.Thr214_Ala220=	NP_001294973.1:p.Ala221_Ala223del	NP_001294973.1:p.Ala222_Ala223del	NP_001294973.1:p.Ala223del	NP_001294973.1:p.Ala223dup	NP_001294973.1:p.Ala222_Ala223dup
probable RNA-binding protein 23 isoform X8	XP_011535205.1:p.Thr214_Ala220=	XP_011535205.1:p.Ala221_Ala223del	XP_011535205.1:p.Ala222_Ala223del	XP_011535205.1:p.Ala223del	XP_011535205.1:p.Ala223dup	XP_011535205.1:p.Ala222_Ala223dup
probable RNA-binding protein 23 isoform X8	XP_011535208.1:p.Thr214_Ala220=	XP_011535208.1:p.Ala221_Ala223del	XP_011535208.1:p.Ala222_Ala223del	XP_011535208.1:p.Ala223del	XP_011535208.1:p.Ala223dup	XP_011535208.1:p.Ala222_Ala223dup
probable RNA-binding protein 23 isoform X8	XP_047287477.1:p.Thr214_Ala220=	XP_047287477.1:p.Ala221_Ala223del	XP_047287477.1:p.Ala222_Ala223del	XP_047287477.1:p.Ala223del	XP_047287477.1:p.Ala223dup	XP_047287477.1:p.Ala222_Ala223dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

37 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WARNICH_LAB	ss678397586	Apr 25, 2013 (138)
2	SSIP	ss947324697	Aug 21, 2014 (142)
3	EVA_GENOME_DK	ss1574724572	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1707973546	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1707986961	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1710626357	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710626384	Apr 01, 2015 (144)
8	EVA_EXAC	ss1712047879	Apr 01, 2015 (144)
9	EVA_EXAC	ss1712047880	Apr 01, 2015 (144)
10	EVA_EXAC	ss1712047882	Apr 01, 2015 (144)
11	SWEGEN	ss3011861962	Nov 08, 2017 (151)
12	EGCUT_WGS	ss3679102025	Jul 13, 2019 (153)
13	ACPOP	ss3740197692	Jul 13, 2019 (153)
14	EVA	ss3833810733	Apr 27, 2020 (154)
15	FSA-LAB	ss3984052806	Apr 26, 2021 (155)
16	GNOMAD	ss4274437664	Apr 26, 2021 (155)
17	GNOMAD	ss4274437667	Apr 26, 2021 (155)
18	GNOMAD	ss4274437668	Apr 26, 2021 (155)
19	GNOMAD	ss4274437669	Apr 26, 2021 (155)
20	TOPMED	ss4963435636	Apr 26, 2021 (155)
21	TOPMED	ss4963435638	Apr 26, 2021 (155)
22	TOPMED	ss4963435639	Apr 26, 2021 (155)
23	TOPMED	ss4963435640	Apr 26, 2021 (155)
24	EVA	ss5141979016	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5212297008	Apr 26, 2021 (155)
26	EVA	ss5236915616	Apr 26, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5295492730	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5489624492	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5489624493	Oct 16, 2022 (156)
30	EVA	ss5624043788	Oct 16, 2022 (156)
31	SANFORD_IMAGENETICS	ss5655798642	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5764830857	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5764830859	Oct 16, 2022 (156)
34	YY_MCH	ss5814570812	Oct 16, 2022 (156)
35	EVA	ss5848379845	Oct 16, 2022 (156)
36	EVA	ss5848379846	Oct 16, 2022 (156)
37	EVA	ss5900513187	Oct 16, 2022 (156)
38	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 35065960 (NC_000014.8:23371265:GCA: 386/3854) Row 35065961 (NC_000014.8:23371265::GCA 1740/3854)	-	Oct 12, 2018 (152)
39	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 35065960 (NC_000014.8:23371265:GCA: 386/3854) Row 35065961 (NC_000014.8:23371265::GCA 1740/3854)	-	Oct 12, 2018 (152)
40	Genetic variation in the Estonian population	NC_000014.8 - 23371266	Oct 12, 2018 (152)
41	ExAC Submission ignored due to conflicting rows: Row 1744520 (NC_000014.8:23371265::GCA 3356/118096) Row 1744521 (NC_000014.8:23371265:GCA: 195/118096) Row 1744524 (NC_000014.8:23371265:GCAGCA: 3/118096)	-	Oct 12, 2018 (152)
42	ExAC Submission ignored due to conflicting rows: Row 1744520 (NC_000014.8:23371265::GCA 3356/118096) Row 1744521 (NC_000014.8:23371265:GCA: 195/118096) Row 1744524 (NC_000014.8:23371265:GCAGCA: 3/118096)	-	Oct 12, 2018 (152)
43	ExAC Submission ignored due to conflicting rows: Row 1744520 (NC_000014.8:23371265::GCA 3356/118096) Row 1744521 (NC_000014.8:23371265:GCA: 195/118096) Row 1744524 (NC_000014.8:23371265:GCAGCA: 3/118096)	-	Oct 12, 2018 (152)
44	The Danish reference pan genome	NC_000014.8 - 23371266	Apr 27, 2020 (154)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445139905 (NC_000014.9:22902056::GCA 2301/140064) Row 445139908 (NC_000014.9:22902056:GCA: 52/140064) Row 445139909 (NC_000014.9:22902056:GCAGCA: 4/140070)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445139905 (NC_000014.9:22902056::GCA 2301/140064) Row 445139908 (NC_000014.9:22902056:GCA: 52/140064) Row 445139909 (NC_000014.9:22902056:GCAGCA: 4/140070)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445139905 (NC_000014.9:22902056::GCA 2301/140064) Row 445139908 (NC_000014.9:22902056:GCA: 52/140064) Row 445139909 (NC_000014.9:22902056:GCAGCA: 4/140070)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 445139905 (NC_000014.9:22902056::GCA 2301/140064) Row 445139908 (NC_000014.9:22902056:GCA: 52/140064) Row 445139909 (NC_000014.9:22902056:GCAGCA: 4/140070)...	-	Apr 26, 2021 (155)
49	gnomAD - Exomes Submission ignored due to conflicting rows: Row 9842625 (NC_000014.8:23371265::GCA 6567/240528) Row 9842627 (NC_000014.8:23371265:GCAGCA: 7/240528)	-	Jul 13, 2019 (153)
50	gnomAD - Exomes Submission ignored due to conflicting rows: Row 9842625 (NC_000014.8:23371265::GCA 6567/240528) Row 9842627 (NC_000014.8:23371265:GCAGCA: 7/240528)	-	Jul 13, 2019 (153)
51	Northern Sweden	NC_000014.8 - 23371266	Jul 13, 2019 (153)
52	8.3KJPN	NC_000014.8 - 23371266	Apr 26, 2021 (155)
53	14KJPN Submission ignored due to conflicting rows: Row 98667961 (NC_000014.9:22902056::GCA 301/28258) Row 98667963 (NC_000014.9:22902056:GCA: 1/28258)	-	Oct 16, 2022 (156)
54	14KJPN Submission ignored due to conflicting rows: Row 98667961 (NC_000014.9:22902056::GCA 301/28258) Row 98667963 (NC_000014.9:22902056:GCA: 1/28258)	-	Oct 16, 2022 (156)
55	TopMed Submission ignored due to conflicting rows: Row 178981295 (NC_000014.9:22902056::GCAGCA 1/264690) Row 178981297 (NC_000014.9:22902056:GCA: 199/264690) Row 178981298 (NC_000014.9:22902056:GCAGCA: 14/264690)...	-	Apr 26, 2021 (155)
56	TopMed Submission ignored due to conflicting rows: Row 178981295 (NC_000014.9:22902056::GCAGCA 1/264690) Row 178981297 (NC_000014.9:22902056:GCA: 199/264690) Row 178981298 (NC_000014.9:22902056:GCAGCA: 14/264690)...	-	Apr 26, 2021 (155)
57	TopMed Submission ignored due to conflicting rows: Row 178981295 (NC_000014.9:22902056::GCAGCA 1/264690) Row 178981297 (NC_000014.9:22902056:GCA: 199/264690) Row 178981298 (NC_000014.9:22902056:GCAGCA: 14/264690)...	-	Apr 26, 2021 (155)
58	TopMed Submission ignored due to conflicting rows: Row 178981295 (NC_000014.9:22902056::GCAGCA 1/264690) Row 178981297 (NC_000014.9:22902056:GCA: 199/264690) Row 178981298 (NC_000014.9:22902056:GCAGCA: 14/264690)...	-	Apr 26, 2021 (155)
59	UK 10K study - Twins Submission ignored due to conflicting rows: Row 35065960 (NC_000014.8:23371265:GCA: 699/3708) Row 35065961 (NC_000014.8:23371265::GCA 1190/3708)	-	Oct 12, 2018 (152)
60	UK 10K study - Twins Submission ignored due to conflicting rows: Row 35065960 (NC_000014.8:23371265:GCA: 699/3708) Row 35065961 (NC_000014.8:23371265::GCA 1190/3708)	-	Oct 12, 2018 (152)
61	ALFA	NC_000014.9 - 22902057	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs386380878	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4274437669, ss4963435640	NC_000014.9:22902056:GCAGCAGCA:	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAG	(self)
9632792893	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAG	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAG	(self)
ss1712047882	NC_000014.8:23371265:GCAGCA:	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAG	(self)
ss4274437668, ss4963435639	NC_000014.9:22902056:GCAGCA:	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAG	(self)
9632792893	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAG	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAG	(self)
ss1707973546, ss1707986961, ss1712047879, ss3011861962	NC_000014.8:23371265:GCA:	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAG	(self)
ss5848379845	NC_000014.8:23371281:CAG:	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAG
ss4274437667, ss4963435638, ss5141979016, ss5489624492, ss5764830859	NC_000014.9:22902056:GCA:	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAG	(self)
9632792893	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAG	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAG	(self)
24840273, 437230, 13482557, 70266315, ss678397586, ss947324697, ss1574724572, ss1712047880, ss3679102025, ss3740197692, ss3833810733, ss5212297008, ss5624043788, ss5655798642	NC_000014.8:23371265::GCA	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAG	(self)
ss1710626357, ss1710626384	NC_000014.8:23371268::GCA	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAG	(self)
ss3984052806, ss5848379846	NC_000014.8:23371284::CAG	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAG	(self)
ss4274437664, ss5236915616, ss5295492730, ss5489624493, ss5764830857, ss5814570812, ss5900513187	NC_000014.9:22902056::GCA	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAG	(self)
9632792893	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAG	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAG	(self)
ss4963435636	NC_000014.9:22902056::GCAGCA	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAGCAG	(self)
9632792893	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAGCAG	NC_000014.9:22902056:GCAGCAGCAGCAG… NC_000014.9:22902056:GCAGCAGCAGCAGCAGCAG:GCAGCAGCAGCAGCAGCAGCAGCAG	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs376457710

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs376457710