Name: rs11471267
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.

rs11471267

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:33365598-33365624 (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(A)₁₇ / del(A)₁₅ / del(A)₁₄ / d…
del(A)₁₇ / del(A)₁₅ / del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₅ / dup(A)₆ / dup(A)₂₃
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.2415 (1357/5620, ALFA)
(A)₂₇=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CDK5RAP1 : Intron Variant
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	5620	AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.7488	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.2415, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0098, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.65798	0.142237	0.199783	32
European	Sub	5216	AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.7295	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.2600, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0105, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.631394	0.153456	0.21515	32
African	Sub	288	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	14	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	274	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	28	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	22	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	6	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	36	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	36	AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.97	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.03, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	0.944444	0.0	0.055556	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	5620	(A)₂₇=0.7488	del(A)₁₇=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.2415, delA=0.0098, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	5216	(A)₂₇=0.7295	del(A)₁₇=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.2600, delA=0.0105, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	288	(A)₂₇=1.000	del(A)₁₇=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	36	(A)₂₇=1.00	del(A)₁₇=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Other	Sub	36	(A)₂₇=0.97	del(A)₁₇=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.03, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Asian	Sub	28	(A)₂₇=1.00	del(A)₁₇=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	8	(A)₂₇=1.0	del(A)₁₇=0.0, del(A)₁₅=0.0, del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	South Asian	Sub	8	(A)₂₇=1.0	del(A)₁₇=0.0, del(A)₁₅=0.0, del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₅=0.0
The Danish reference pan genome	Danish	Study-wide	40	(A)₂₇=0.45	delAA=0.55

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 20	NC_000020.11:g.33365608_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365610_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365611_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365612_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365613_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365614_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365615_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365616_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365617_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365620_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365621_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365622_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365623_33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365624del
GRCh38.p14 chr 20	NC_000020.11:g.33365624dup
GRCh38.p14 chr 20	NC_000020.11:g.33365623_33365624dup
GRCh38.p14 chr 20	NC_000020.11:g.33365622_33365624dup
GRCh38.p14 chr 20	NC_000020.11:g.33365620_33365624dup
GRCh38.p14 chr 20	NC_000020.11:g.33365619_33365624dup
GRCh38.p14 chr 20	NC_000020.11:g.33365602_33365624dup
GRCh37.p13 chr 20	NC_000020.10:g.31953414_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953416_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953417_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953418_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953419_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953420_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953421_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953422_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953423_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953426_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953427_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953428_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953429_31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953430del
GRCh37.p13 chr 20	NC_000020.10:g.31953430dup
GRCh37.p13 chr 20	NC_000020.10:g.31953429_31953430dup
GRCh37.p13 chr 20	NC_000020.10:g.31953428_31953430dup
GRCh37.p13 chr 20	NC_000020.10:g.31953426_31953430dup
GRCh37.p13 chr 20	NC_000020.10:g.31953425_31953430dup
GRCh37.p13 chr 20	NC_000020.10:g.31953408_31953430dup

Gene: CDK5RAP1, CDK5 regulatory subunit associated protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CDK5RAP1 transcript variant 3	NM_001278167.2:c.1539+124… NM_001278167.2:c.1539+1245_1539+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant 4	NM_001278168.2:c.1311+124… NM_001278168.2:c.1311+1245_1311+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant 5	NM_001278169.1:c.1461+124… NM_001278169.1:c.1461+1245_1461+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant 6	NM_001365728.1:c.1584+124… NM_001365728.1:c.1584+1245_1584+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant 2	NM_016082.4:c.1545+1245_1… NM_016082.4:c.1545+1245_1545+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant 1	NM_016408.4:c.1542+1245_1… NM_016408.4:c.1542+1245_1542+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant X1	XM_011528856.4:c.1230+124… XM_011528856.4:c.1230+1245_1230+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant X2	XM_011528857.3:c.1212+124… XM_011528857.3:c.1212+1245_1212+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant X4	XM_011528859.3:c.1161+124… XM_011528859.3:c.1161+1245_1161+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant X6	XM_024451893.2:c.993+1245… XM_024451893.2:c.993+1245_993+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant X7	XM_024451895.2:c.993+1245… XM_024451895.2:c.993+1245_993+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant X3	XM_047440194.1:c.1161+124… XM_047440194.1:c.1161+1245_1161+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant X8	XM_047440196.1:c.780+1245… XM_047440196.1:c.780+1245_780+1261del	N/A	Intron Variant
CDK5RAP1 transcript variant X5	XM_047440195.1:c.	N/A	Genic Downstream Transcript Variant
CDK5RAP1 transcript variant X9	XM_047440197.1:c.	N/A	Genic Downstream Transcript Variant

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	(A)₂₇=	del(A)₁₇	del(A)₁₅	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₅	dup(A)₆	dup(A)₂₃
GRCh38.p14 chr 20	NC_000020.11:g.33365598_33365624=	NC_000020.11:g.33365608_33365624del	NC_000020.11:g.33365610_33365624del	NC_000020.11:g.33365611_33365624del	NC_000020.11:g.33365612_33365624del	NC_000020.11:g.33365613_33365624del	NC_000020.11:g.33365614_33365624del	NC_000020.11:g.33365615_33365624del	NC_000020.11:g.33365616_33365624del	NC_000020.11:g.33365617_33365624del	NC_000020.11:g.33365620_33365624del	NC_000020.11:g.33365621_33365624del	NC_000020.11:g.33365622_33365624del	NC_000020.11:g.33365623_33365624del	NC_000020.11:g.33365624del	NC_000020.11:g.33365624dup	NC_000020.11:g.33365623_33365624dup	NC_000020.11:g.33365622_33365624dup	NC_000020.11:g.33365620_33365624dup	NC_000020.11:g.33365619_33365624dup	NC_000020.11:g.33365602_33365624dup
GRCh37.p13 chr 20	NC_000020.10:g.31953404_31953430=	NC_000020.10:g.31953414_31953430del	NC_000020.10:g.31953416_31953430del	NC_000020.10:g.31953417_31953430del	NC_000020.10:g.31953418_31953430del	NC_000020.10:g.31953419_31953430del	NC_000020.10:g.31953420_31953430del	NC_000020.10:g.31953421_31953430del	NC_000020.10:g.31953422_31953430del	NC_000020.10:g.31953423_31953430del	NC_000020.10:g.31953426_31953430del	NC_000020.10:g.31953427_31953430del	NC_000020.10:g.31953428_31953430del	NC_000020.10:g.31953429_31953430del	NC_000020.10:g.31953430del	NC_000020.10:g.31953430dup	NC_000020.10:g.31953429_31953430dup	NC_000020.10:g.31953428_31953430dup	NC_000020.10:g.31953426_31953430dup	NC_000020.10:g.31953425_31953430dup	NC_000020.10:g.31953408_31953430dup
CDK5RAP1 transcript variant 3	NM_001278167.1:c.1539+1261=	NM_001278167.1:c.1539+1245_1539+1261del	NM_001278167.1:c.1539+1247_1539+1261del	NM_001278167.1:c.1539+1248_1539+1261del	NM_001278167.1:c.1539+1249_1539+1261del	NM_001278167.1:c.1539+1250_1539+1261del	NM_001278167.1:c.1539+1251_1539+1261del	NM_001278167.1:c.1539+1252_1539+1261del	NM_001278167.1:c.1539+1253_1539+1261del	NM_001278167.1:c.1539+1254_1539+1261del	NM_001278167.1:c.1539+1257_1539+1261del	NM_001278167.1:c.1539+1258_1539+1261del	NM_001278167.1:c.1539+1259_1539+1261del	NM_001278167.1:c.1539+1260_1539+1261del	NM_001278167.1:c.1539+1261del	NM_001278167.1:c.1539+1261dup	NM_001278167.1:c.1539+1260_1539+1261dup	NM_001278167.1:c.1539+1259_1539+1261dup	NM_001278167.1:c.1539+1257_1539+1261dup	NM_001278167.1:c.1539+1256_1539+1261dup	NM_001278167.1:c.1539+1239_1539+1261dup
CDK5RAP1 transcript variant 3	NM_001278167.2:c.1539+1261=	NM_001278167.2:c.1539+1245_1539+1261del	NM_001278167.2:c.1539+1247_1539+1261del	NM_001278167.2:c.1539+1248_1539+1261del	NM_001278167.2:c.1539+1249_1539+1261del	NM_001278167.2:c.1539+1250_1539+1261del	NM_001278167.2:c.1539+1251_1539+1261del	NM_001278167.2:c.1539+1252_1539+1261del	NM_001278167.2:c.1539+1253_1539+1261del	NM_001278167.2:c.1539+1254_1539+1261del	NM_001278167.2:c.1539+1257_1539+1261del	NM_001278167.2:c.1539+1258_1539+1261del	NM_001278167.2:c.1539+1259_1539+1261del	NM_001278167.2:c.1539+1260_1539+1261del	NM_001278167.2:c.1539+1261del	NM_001278167.2:c.1539+1261dup	NM_001278167.2:c.1539+1260_1539+1261dup	NM_001278167.2:c.1539+1259_1539+1261dup	NM_001278167.2:c.1539+1257_1539+1261dup	NM_001278167.2:c.1539+1256_1539+1261dup	NM_001278167.2:c.1539+1239_1539+1261dup
CDK5RAP1 transcript variant 4	NM_001278168.1:c.1311+1261=	NM_001278168.1:c.1311+1245_1311+1261del	NM_001278168.1:c.1311+1247_1311+1261del	NM_001278168.1:c.1311+1248_1311+1261del	NM_001278168.1:c.1311+1249_1311+1261del	NM_001278168.1:c.1311+1250_1311+1261del	NM_001278168.1:c.1311+1251_1311+1261del	NM_001278168.1:c.1311+1252_1311+1261del	NM_001278168.1:c.1311+1253_1311+1261del	NM_001278168.1:c.1311+1254_1311+1261del	NM_001278168.1:c.1311+1257_1311+1261del	NM_001278168.1:c.1311+1258_1311+1261del	NM_001278168.1:c.1311+1259_1311+1261del	NM_001278168.1:c.1311+1260_1311+1261del	NM_001278168.1:c.1311+1261del	NM_001278168.1:c.1311+1261dup	NM_001278168.1:c.1311+1260_1311+1261dup	NM_001278168.1:c.1311+1259_1311+1261dup	NM_001278168.1:c.1311+1257_1311+1261dup	NM_001278168.1:c.1311+1256_1311+1261dup	NM_001278168.1:c.1311+1239_1311+1261dup
CDK5RAP1 transcript variant 4	NM_001278168.2:c.1311+1261=	NM_001278168.2:c.1311+1245_1311+1261del	NM_001278168.2:c.1311+1247_1311+1261del	NM_001278168.2:c.1311+1248_1311+1261del	NM_001278168.2:c.1311+1249_1311+1261del	NM_001278168.2:c.1311+1250_1311+1261del	NM_001278168.2:c.1311+1251_1311+1261del	NM_001278168.2:c.1311+1252_1311+1261del	NM_001278168.2:c.1311+1253_1311+1261del	NM_001278168.2:c.1311+1254_1311+1261del	NM_001278168.2:c.1311+1257_1311+1261del	NM_001278168.2:c.1311+1258_1311+1261del	NM_001278168.2:c.1311+1259_1311+1261del	NM_001278168.2:c.1311+1260_1311+1261del	NM_001278168.2:c.1311+1261del	NM_001278168.2:c.1311+1261dup	NM_001278168.2:c.1311+1260_1311+1261dup	NM_001278168.2:c.1311+1259_1311+1261dup	NM_001278168.2:c.1311+1257_1311+1261dup	NM_001278168.2:c.1311+1256_1311+1261dup	NM_001278168.2:c.1311+1239_1311+1261dup
CDK5RAP1 transcript variant 5	NM_001278169.1:c.1461+1261=	NM_001278169.1:c.1461+1245_1461+1261del	NM_001278169.1:c.1461+1247_1461+1261del	NM_001278169.1:c.1461+1248_1461+1261del	NM_001278169.1:c.1461+1249_1461+1261del	NM_001278169.1:c.1461+1250_1461+1261del	NM_001278169.1:c.1461+1251_1461+1261del	NM_001278169.1:c.1461+1252_1461+1261del	NM_001278169.1:c.1461+1253_1461+1261del	NM_001278169.1:c.1461+1254_1461+1261del	NM_001278169.1:c.1461+1257_1461+1261del	NM_001278169.1:c.1461+1258_1461+1261del	NM_001278169.1:c.1461+1259_1461+1261del	NM_001278169.1:c.1461+1260_1461+1261del	NM_001278169.1:c.1461+1261del	NM_001278169.1:c.1461+1261dup	NM_001278169.1:c.1461+1260_1461+1261dup	NM_001278169.1:c.1461+1259_1461+1261dup	NM_001278169.1:c.1461+1257_1461+1261dup	NM_001278169.1:c.1461+1256_1461+1261dup	NM_001278169.1:c.1461+1239_1461+1261dup
CDK5RAP1 transcript variant 6	NM_001365728.1:c.1584+1261=	NM_001365728.1:c.1584+1245_1584+1261del	NM_001365728.1:c.1584+1247_1584+1261del	NM_001365728.1:c.1584+1248_1584+1261del	NM_001365728.1:c.1584+1249_1584+1261del	NM_001365728.1:c.1584+1250_1584+1261del	NM_001365728.1:c.1584+1251_1584+1261del	NM_001365728.1:c.1584+1252_1584+1261del	NM_001365728.1:c.1584+1253_1584+1261del	NM_001365728.1:c.1584+1254_1584+1261del	NM_001365728.1:c.1584+1257_1584+1261del	NM_001365728.1:c.1584+1258_1584+1261del	NM_001365728.1:c.1584+1259_1584+1261del	NM_001365728.1:c.1584+1260_1584+1261del	NM_001365728.1:c.1584+1261del	NM_001365728.1:c.1584+1261dup	NM_001365728.1:c.1584+1260_1584+1261dup	NM_001365728.1:c.1584+1259_1584+1261dup	NM_001365728.1:c.1584+1257_1584+1261dup	NM_001365728.1:c.1584+1256_1584+1261dup	NM_001365728.1:c.1584+1239_1584+1261dup
CDK5RAP1 transcript variant 2	NM_016082.4:c.1545+1261=	NM_016082.4:c.1545+1245_1545+1261del	NM_016082.4:c.1545+1247_1545+1261del	NM_016082.4:c.1545+1248_1545+1261del	NM_016082.4:c.1545+1249_1545+1261del	NM_016082.4:c.1545+1250_1545+1261del	NM_016082.4:c.1545+1251_1545+1261del	NM_016082.4:c.1545+1252_1545+1261del	NM_016082.4:c.1545+1253_1545+1261del	NM_016082.4:c.1545+1254_1545+1261del	NM_016082.4:c.1545+1257_1545+1261del	NM_016082.4:c.1545+1258_1545+1261del	NM_016082.4:c.1545+1259_1545+1261del	NM_016082.4:c.1545+1260_1545+1261del	NM_016082.4:c.1545+1261del	NM_016082.4:c.1545+1261dup	NM_016082.4:c.1545+1260_1545+1261dup	NM_016082.4:c.1545+1259_1545+1261dup	NM_016082.4:c.1545+1257_1545+1261dup	NM_016082.4:c.1545+1256_1545+1261dup	NM_016082.4:c.1545+1239_1545+1261dup
CDK5RAP1 transcript variant 1	NM_016408.3:c.1542+1261=	NM_016408.3:c.1542+1245_1542+1261del	NM_016408.3:c.1542+1247_1542+1261del	NM_016408.3:c.1542+1248_1542+1261del	NM_016408.3:c.1542+1249_1542+1261del	NM_016408.3:c.1542+1250_1542+1261del	NM_016408.3:c.1542+1251_1542+1261del	NM_016408.3:c.1542+1252_1542+1261del	NM_016408.3:c.1542+1253_1542+1261del	NM_016408.3:c.1542+1254_1542+1261del	NM_016408.3:c.1542+1257_1542+1261del	NM_016408.3:c.1542+1258_1542+1261del	NM_016408.3:c.1542+1259_1542+1261del	NM_016408.3:c.1542+1260_1542+1261del	NM_016408.3:c.1542+1261del	NM_016408.3:c.1542+1261dup	NM_016408.3:c.1542+1260_1542+1261dup	NM_016408.3:c.1542+1259_1542+1261dup	NM_016408.3:c.1542+1257_1542+1261dup	NM_016408.3:c.1542+1256_1542+1261dup	NM_016408.3:c.1542+1239_1542+1261dup
CDK5RAP1 transcript variant 1	NM_016408.4:c.1542+1261=	NM_016408.4:c.1542+1245_1542+1261del	NM_016408.4:c.1542+1247_1542+1261del	NM_016408.4:c.1542+1248_1542+1261del	NM_016408.4:c.1542+1249_1542+1261del	NM_016408.4:c.1542+1250_1542+1261del	NM_016408.4:c.1542+1251_1542+1261del	NM_016408.4:c.1542+1252_1542+1261del	NM_016408.4:c.1542+1253_1542+1261del	NM_016408.4:c.1542+1254_1542+1261del	NM_016408.4:c.1542+1257_1542+1261del	NM_016408.4:c.1542+1258_1542+1261del	NM_016408.4:c.1542+1259_1542+1261del	NM_016408.4:c.1542+1260_1542+1261del	NM_016408.4:c.1542+1261del	NM_016408.4:c.1542+1261dup	NM_016408.4:c.1542+1260_1542+1261dup	NM_016408.4:c.1542+1259_1542+1261dup	NM_016408.4:c.1542+1257_1542+1261dup	NM_016408.4:c.1542+1256_1542+1261dup	NM_016408.4:c.1542+1239_1542+1261dup
CDK5RAP1 transcript variant X1	XM_005260434.1:c.1230+1261=	XM_005260434.1:c.1230+1245_1230+1261del	XM_005260434.1:c.1230+1247_1230+1261del	XM_005260434.1:c.1230+1248_1230+1261del	XM_005260434.1:c.1230+1249_1230+1261del	XM_005260434.1:c.1230+1250_1230+1261del	XM_005260434.1:c.1230+1251_1230+1261del	XM_005260434.1:c.1230+1252_1230+1261del	XM_005260434.1:c.1230+1253_1230+1261del	XM_005260434.1:c.1230+1254_1230+1261del	XM_005260434.1:c.1230+1257_1230+1261del	XM_005260434.1:c.1230+1258_1230+1261del	XM_005260434.1:c.1230+1259_1230+1261del	XM_005260434.1:c.1230+1260_1230+1261del	XM_005260434.1:c.1230+1261del	XM_005260434.1:c.1230+1261dup	XM_005260434.1:c.1230+1260_1230+1261dup	XM_005260434.1:c.1230+1259_1230+1261dup	XM_005260434.1:c.1230+1257_1230+1261dup	XM_005260434.1:c.1230+1256_1230+1261dup	XM_005260434.1:c.1230+1239_1230+1261dup
CDK5RAP1 transcript variant X2	XM_005260435.1:c.780+1261=	XM_005260435.1:c.780+1245_780+1261del	XM_005260435.1:c.780+1247_780+1261del	XM_005260435.1:c.780+1248_780+1261del	XM_005260435.1:c.780+1249_780+1261del	XM_005260435.1:c.780+1250_780+1261del	XM_005260435.1:c.780+1251_780+1261del	XM_005260435.1:c.780+1252_780+1261del	XM_005260435.1:c.780+1253_780+1261del	XM_005260435.1:c.780+1254_780+1261del	XM_005260435.1:c.780+1257_780+1261del	XM_005260435.1:c.780+1258_780+1261del	XM_005260435.1:c.780+1259_780+1261del	XM_005260435.1:c.780+1260_780+1261del	XM_005260435.1:c.780+1261del	XM_005260435.1:c.780+1261dup	XM_005260435.1:c.780+1260_780+1261dup	XM_005260435.1:c.780+1259_780+1261dup	XM_005260435.1:c.780+1257_780+1261dup	XM_005260435.1:c.780+1256_780+1261dup	XM_005260435.1:c.780+1239_780+1261dup
CDK5RAP1 transcript variant X1	XM_011528856.4:c.1230+1261=	XM_011528856.4:c.1230+1245_1230+1261del	XM_011528856.4:c.1230+1247_1230+1261del	XM_011528856.4:c.1230+1248_1230+1261del	XM_011528856.4:c.1230+1249_1230+1261del	XM_011528856.4:c.1230+1250_1230+1261del	XM_011528856.4:c.1230+1251_1230+1261del	XM_011528856.4:c.1230+1252_1230+1261del	XM_011528856.4:c.1230+1253_1230+1261del	XM_011528856.4:c.1230+1254_1230+1261del	XM_011528856.4:c.1230+1257_1230+1261del	XM_011528856.4:c.1230+1258_1230+1261del	XM_011528856.4:c.1230+1259_1230+1261del	XM_011528856.4:c.1230+1260_1230+1261del	XM_011528856.4:c.1230+1261del	XM_011528856.4:c.1230+1261dup	XM_011528856.4:c.1230+1260_1230+1261dup	XM_011528856.4:c.1230+1259_1230+1261dup	XM_011528856.4:c.1230+1257_1230+1261dup	XM_011528856.4:c.1230+1256_1230+1261dup	XM_011528856.4:c.1230+1239_1230+1261dup
CDK5RAP1 transcript variant X2	XM_011528857.3:c.1212+1261=	XM_011528857.3:c.1212+1245_1212+1261del	XM_011528857.3:c.1212+1247_1212+1261del	XM_011528857.3:c.1212+1248_1212+1261del	XM_011528857.3:c.1212+1249_1212+1261del	XM_011528857.3:c.1212+1250_1212+1261del	XM_011528857.3:c.1212+1251_1212+1261del	XM_011528857.3:c.1212+1252_1212+1261del	XM_011528857.3:c.1212+1253_1212+1261del	XM_011528857.3:c.1212+1254_1212+1261del	XM_011528857.3:c.1212+1257_1212+1261del	XM_011528857.3:c.1212+1258_1212+1261del	XM_011528857.3:c.1212+1259_1212+1261del	XM_011528857.3:c.1212+1260_1212+1261del	XM_011528857.3:c.1212+1261del	XM_011528857.3:c.1212+1261dup	XM_011528857.3:c.1212+1260_1212+1261dup	XM_011528857.3:c.1212+1259_1212+1261dup	XM_011528857.3:c.1212+1257_1212+1261dup	XM_011528857.3:c.1212+1256_1212+1261dup	XM_011528857.3:c.1212+1239_1212+1261dup
CDK5RAP1 transcript variant X4	XM_011528859.3:c.1161+1261=	XM_011528859.3:c.1161+1245_1161+1261del	XM_011528859.3:c.1161+1247_1161+1261del	XM_011528859.3:c.1161+1248_1161+1261del	XM_011528859.3:c.1161+1249_1161+1261del	XM_011528859.3:c.1161+1250_1161+1261del	XM_011528859.3:c.1161+1251_1161+1261del	XM_011528859.3:c.1161+1252_1161+1261del	XM_011528859.3:c.1161+1253_1161+1261del	XM_011528859.3:c.1161+1254_1161+1261del	XM_011528859.3:c.1161+1257_1161+1261del	XM_011528859.3:c.1161+1258_1161+1261del	XM_011528859.3:c.1161+1259_1161+1261del	XM_011528859.3:c.1161+1260_1161+1261del	XM_011528859.3:c.1161+1261del	XM_011528859.3:c.1161+1261dup	XM_011528859.3:c.1161+1260_1161+1261dup	XM_011528859.3:c.1161+1259_1161+1261dup	XM_011528859.3:c.1161+1257_1161+1261dup	XM_011528859.3:c.1161+1256_1161+1261dup	XM_011528859.3:c.1161+1239_1161+1261dup
CDK5RAP1 transcript variant X6	XM_024451893.2:c.993+1261=	XM_024451893.2:c.993+1245_993+1261del	XM_024451893.2:c.993+1247_993+1261del	XM_024451893.2:c.993+1248_993+1261del	XM_024451893.2:c.993+1249_993+1261del	XM_024451893.2:c.993+1250_993+1261del	XM_024451893.2:c.993+1251_993+1261del	XM_024451893.2:c.993+1252_993+1261del	XM_024451893.2:c.993+1253_993+1261del	XM_024451893.2:c.993+1254_993+1261del	XM_024451893.2:c.993+1257_993+1261del	XM_024451893.2:c.993+1258_993+1261del	XM_024451893.2:c.993+1259_993+1261del	XM_024451893.2:c.993+1260_993+1261del	XM_024451893.2:c.993+1261del	XM_024451893.2:c.993+1261dup	XM_024451893.2:c.993+1260_993+1261dup	XM_024451893.2:c.993+1259_993+1261dup	XM_024451893.2:c.993+1257_993+1261dup	XM_024451893.2:c.993+1256_993+1261dup	XM_024451893.2:c.993+1239_993+1261dup
CDK5RAP1 transcript variant X7	XM_024451895.2:c.993+1261=	XM_024451895.2:c.993+1245_993+1261del	XM_024451895.2:c.993+1247_993+1261del	XM_024451895.2:c.993+1248_993+1261del	XM_024451895.2:c.993+1249_993+1261del	XM_024451895.2:c.993+1250_993+1261del	XM_024451895.2:c.993+1251_993+1261del	XM_024451895.2:c.993+1252_993+1261del	XM_024451895.2:c.993+1253_993+1261del	XM_024451895.2:c.993+1254_993+1261del	XM_024451895.2:c.993+1257_993+1261del	XM_024451895.2:c.993+1258_993+1261del	XM_024451895.2:c.993+1259_993+1261del	XM_024451895.2:c.993+1260_993+1261del	XM_024451895.2:c.993+1261del	XM_024451895.2:c.993+1261dup	XM_024451895.2:c.993+1260_993+1261dup	XM_024451895.2:c.993+1259_993+1261dup	XM_024451895.2:c.993+1257_993+1261dup	XM_024451895.2:c.993+1256_993+1261dup	XM_024451895.2:c.993+1239_993+1261dup
CDK5RAP1 transcript variant X3	XM_047440194.1:c.1161+1261=	XM_047440194.1:c.1161+1245_1161+1261del	XM_047440194.1:c.1161+1247_1161+1261del	XM_047440194.1:c.1161+1248_1161+1261del	XM_047440194.1:c.1161+1249_1161+1261del	XM_047440194.1:c.1161+1250_1161+1261del	XM_047440194.1:c.1161+1251_1161+1261del	XM_047440194.1:c.1161+1252_1161+1261del	XM_047440194.1:c.1161+1253_1161+1261del	XM_047440194.1:c.1161+1254_1161+1261del	XM_047440194.1:c.1161+1257_1161+1261del	XM_047440194.1:c.1161+1258_1161+1261del	XM_047440194.1:c.1161+1259_1161+1261del	XM_047440194.1:c.1161+1260_1161+1261del	XM_047440194.1:c.1161+1261del	XM_047440194.1:c.1161+1261dup	XM_047440194.1:c.1161+1260_1161+1261dup	XM_047440194.1:c.1161+1259_1161+1261dup	XM_047440194.1:c.1161+1257_1161+1261dup	XM_047440194.1:c.1161+1256_1161+1261dup	XM_047440194.1:c.1161+1239_1161+1261dup
CDK5RAP1 transcript variant X8	XM_047440196.1:c.780+1261=	XM_047440196.1:c.780+1245_780+1261del	XM_047440196.1:c.780+1247_780+1261del	XM_047440196.1:c.780+1248_780+1261del	XM_047440196.1:c.780+1249_780+1261del	XM_047440196.1:c.780+1250_780+1261del	XM_047440196.1:c.780+1251_780+1261del	XM_047440196.1:c.780+1252_780+1261del	XM_047440196.1:c.780+1253_780+1261del	XM_047440196.1:c.780+1254_780+1261del	XM_047440196.1:c.780+1257_780+1261del	XM_047440196.1:c.780+1258_780+1261del	XM_047440196.1:c.780+1259_780+1261del	XM_047440196.1:c.780+1260_780+1261del	XM_047440196.1:c.780+1261del	XM_047440196.1:c.780+1261dup	XM_047440196.1:c.780+1260_780+1261dup	XM_047440196.1:c.780+1259_780+1261dup	XM_047440196.1:c.780+1257_780+1261dup	XM_047440196.1:c.780+1256_780+1261dup	XM_047440196.1:c.780+1239_780+1261dup

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#.

61 SubSNP, 35 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41402542	Mar 15, 2016 (147)
2	HGSV	ss82816995	Dec 14, 2007 (135)
3	HUMANGENOME_JCVI	ss95739115	Mar 15, 2016 (147)
4	PJP	ss295045978	May 09, 2011 (134)
5	EVA_GENOME_DK	ss1575699076	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1709342641	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1709342866	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710811527	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710811528	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1710811529	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1710811530	Apr 01, 2015 (144)
12	SWEGEN	ss3018118095	Nov 08, 2017 (151)
13	EVA_DECODE	ss3706863883	Jul 13, 2019 (153)
14	EVA_DECODE	ss3706863884	Jul 13, 2019 (153)
15	EVA_DECODE	ss3706863885	Jul 13, 2019 (153)
16	EVA_DECODE	ss3706863886	Jul 13, 2019 (153)
17	PACBIO	ss3788637558	Jul 13, 2019 (153)
18	PACBIO	ss3793531785	Jul 13, 2019 (153)
19	PACBIO	ss3793531786	Jul 13, 2019 (153)
20	PACBIO	ss3798418668	Jul 13, 2019 (153)
21	PACBIO	ss3798418669	Jul 13, 2019 (153)
22	EVA	ss3835654159	Apr 27, 2020 (154)
23	GNOMAD	ss4352647444	Apr 26, 2021 (155)
24	GNOMAD	ss4352647445	Apr 26, 2021 (155)
25	GNOMAD	ss4352647446	Apr 26, 2021 (155)
26	GNOMAD	ss4352647447	Apr 26, 2021 (155)
27	GNOMAD	ss4352647448	Apr 26, 2021 (155)
28	GNOMAD	ss4352647449	Apr 26, 2021 (155)
29	GNOMAD	ss4352647450	Apr 26, 2021 (155)
30	GNOMAD	ss4352647451	Apr 26, 2021 (155)
31	GNOMAD	ss4352647452	Apr 26, 2021 (155)
32	GNOMAD	ss4352647453	Apr 26, 2021 (155)
33	GNOMAD	ss4352647454	Apr 26, 2021 (155)
34	GNOMAD	ss4352647455	Apr 26, 2021 (155)
35	GNOMAD	ss4352647456	Apr 26, 2021 (155)
36	GNOMAD	ss4352647457	Apr 26, 2021 (155)
37	GNOMAD	ss4352647458	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5229448389	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5229448390	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5229448391	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5229448392	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5229448393	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5229448394	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5308650836	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5308650837	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5308650838	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5500942800	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5500942801	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5500942802	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5500942803	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5500942804	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5789184024	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5789184025	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5789184026	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5789184027	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5789184028	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5789184029	Oct 16, 2022 (156)
58	EVA	ss5845638825	Oct 16, 2022 (156)
59	EVA	ss5845638826	Oct 16, 2022 (156)
60	EVA	ss5845638827	Oct 16, 2022 (156)
61	EVA	ss5845638828	Oct 16, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 43209924 (NC_000020.10:31953404:AA: 1267/3854) Row 43209925 (NC_000020.10:31953403:AAAA: 614/3854)	-	Oct 12, 2018 (152)
63	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 43209924 (NC_000020.10:31953404:AA: 1267/3854) Row 43209925 (NC_000020.10:31953403:AAAA: 614/3854)	-	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000020.10 - 31953404	Apr 27, 2020 (154)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 550606487 (NC_000020.11:33365597::A 1359/73820) Row 550606488 (NC_000020.11:33365597::AA 41/73836) Row 550606489 (NC_000020.11:33365597::AAA 4/73836)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 87417696 (NC_000020.10:31953403:AA: 5149/16464) Row 87417697 (NC_000020.10:31953403:A: 494/16464) Row 87417698 (NC_000020.10:31953403::A 205/16464)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 87417696 (NC_000020.10:31953403:AA: 5149/16464) Row 87417697 (NC_000020.10:31953403:A: 494/16464) Row 87417698 (NC_000020.10:31953403::A 205/16464)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 87417696 (NC_000020.10:31953403:AA: 5149/16464) Row 87417697 (NC_000020.10:31953403:A: 494/16464) Row 87417698 (NC_000020.10:31953403::A 205/16464)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 87417696 (NC_000020.10:31953403:AA: 5149/16464) Row 87417697 (NC_000020.10:31953403:A: 494/16464) Row 87417698 (NC_000020.10:31953403::A 205/16464)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 87417696 (NC_000020.10:31953403:AA: 5149/16464) Row 87417697 (NC_000020.10:31953403:A: 494/16464) Row 87417698 (NC_000020.10:31953403::A 205/16464)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 87417696 (NC_000020.10:31953403:AA: 5149/16464) Row 87417697 (NC_000020.10:31953403:A: 494/16464) Row 87417698 (NC_000020.10:31953403::A 205/16464)...	-	Apr 26, 2021 (155)
87	14KJPN Submission ignored due to conflicting rows: Row 123021128 (NC_000020.11:33365597:AA: 11800/28026) Row 123021129 (NC_000020.11:33365597:A: 1074/28026) Row 123021130 (NC_000020.11:33365597::A 461/28026)...	-	Oct 16, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 123021128 (NC_000020.11:33365597:AA: 11800/28026) Row 123021129 (NC_000020.11:33365597:A: 1074/28026) Row 123021130 (NC_000020.11:33365597::A 461/28026)...	-	Oct 16, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 123021128 (NC_000020.11:33365597:AA: 11800/28026) Row 123021129 (NC_000020.11:33365597:A: 1074/28026) Row 123021130 (NC_000020.11:33365597::A 461/28026)...	-	Oct 16, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 123021128 (NC_000020.11:33365597:AA: 11800/28026) Row 123021129 (NC_000020.11:33365597:A: 1074/28026) Row 123021130 (NC_000020.11:33365597::A 461/28026)...	-	Oct 16, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 123021128 (NC_000020.11:33365597:AA: 11800/28026) Row 123021129 (NC_000020.11:33365597:A: 1074/28026) Row 123021130 (NC_000020.11:33365597::A 461/28026)...	-	Oct 16, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 123021128 (NC_000020.11:33365597:AA: 11800/28026) Row 123021129 (NC_000020.11:33365597:A: 1074/28026) Row 123021130 (NC_000020.11:33365597::A 461/28026)...	-	Oct 16, 2022 (156)
93	UK 10K study - Twins Submission ignored due to conflicting rows: Row 43209924 (NC_000020.10:31953404:AA: 1253/3708) Row 43209925 (NC_000020.10:31953403:AAAA: 605/3708)	-	Oct 12, 2018 (152)
94	UK 10K study - Twins Submission ignored due to conflicting rows: Row 43209924 (NC_000020.10:31953404:AA: 1253/3708) Row 43209925 (NC_000020.10:31953403:AAAA: 605/3708)	-	Oct 12, 2018 (152)
95	UK 10K study - Twins Submission ignored due to conflicting rows: Row 43209924 (NC_000020.10:31953404:AAA: 1253/3708) Row 43209925 (NC_000020.10:31953403:AAAA: 605/3708) Row 43209926 (NC_000020.10:31953405:AA: 1685/3708)	-	Apr 27, 2020 (154)
96	ALFA	NC_000020.11 - 33365598	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)
rs35462140	May 23, 2006 (127)
rs57895458	Oct 11, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4352647458	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4352647457	NC_000020.11:33365597:AAAAAAAAAAAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4352647456	NC_000020.11:33365597:AAAAAAAAAAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4352647455	NC_000020.11:33365597:AAAAAAAAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4352647454	NC_000020.11:33365597:AAAAAAAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5229448394	NC_000020.10:31953403:AAAAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4352647453, ss5789184028	NC_000020.11:33365597:AAAAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss1709342641, ss1709342866, ss5845638826	NC_000020.10:31953403:AAAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3706863886, ss4352647452, ss5500942803	NC_000020.11:33365597:AAAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3018118095, ss3793531785, ss3798418668, ss5229448392, ss5845638825	NC_000020.10:31953403:AAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1710811527, ss1710811528	NC_000020.10:31953404:AAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4352647451, ss5308650838, ss5500942801, ss5789184027	NC_000020.11:33365597:AAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3706863885	NC_000020.11:33365598:AAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss295045978	NC_000020.9:31417089:AA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
756220, ss1575699076, ss3788637558, ss3793531786, ss3798418669, ss3835654159, ss5229448389, ss5845638828	NC_000020.10:31953403:AA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000020.10:31953404:AA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1710811529, ss1710811530	NC_000020.10:31953405:AA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4352647450, ss5500942800, ss5789184024	NC_000020.11:33365597:AA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3706863884	NC_000020.11:33365599:AA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss41402542, ss95739115	NT_011362.10:2149520:AA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss82816995	NC_000020.9:31417090:A:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5229448390	NC_000020.10:31953403:A:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5308650836, ss5500942802, ss5789184025	NC_000020.11:33365597:A:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3706863883	NC_000020.11:33365600:A:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5229448391	NC_000020.10:31953403::A	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4352647444, ss5308650837, ss5500942804, ss5789184026	NC_000020.11:33365597::A	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5229448393	NC_000020.10:31953403::AA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4352647445, ss5789184029	NC_000020.11:33365597::AA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4352647446	NC_000020.11:33365597::AAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4352647447	NC_000020.11:33365597::AAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
4463108016	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5845638827	NC_000020.10:31953403::AAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ss4352647448	NC_000020.11:33365597::AAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4352647449	NC_000020.11:33365597::AAAAAAAAAAA… NC_000020.11:33365597::AAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3359321757	NC_000020.11:33365597:AAAAAAAAAA:	NC_000020.11:33365597:AAAAAAAAAAAA… NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

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

No publications for rs11471267

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
Top▲ Help
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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11471267