Name: rs71297337
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.

rs71297337

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:706816-706829 (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(T)₇ / del(T)₅ / del(T)₄ / delT…
del(T)₇ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / ins(T)₂₀
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.03444 (973/28256, 14KJPN)
delT=0.03498 (586/16754, 8.3KJPN)
del(T)₇=0.00000 (0/10582, ALFA) (+ 14 more)
del(T)₅=0.00000 (0/10582, ALFA)
del(T)₄=0.00000 (0/10582, ALFA)
delTTT=0.00000 (0/10582, ALFA)
delTT=0.00000 (0/10582, ALFA)
delT=0.00000 (0/10582, ALFA)
dupT=0.00000 (0/10582, ALFA)
dupTT=0.00000 (0/10582, ALFA)
dupTTT=0.00000 (0/10582, ALFA)
dup(T)₄=0.00000 (0/10582, ALFA)
dup(T)₅=0.00000 (0/10582, ALFA)
dup(T)₆=0.00000 (0/10582, ALFA)
dup(T)₇=0.00000 (0/10582, ALFA)
delT=0.0598 (106/1774, Korea1K)
delT=0.07 (3/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ENOSF1 : 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	HWEP
Total	Global	10582	TTTTTTTTTTTTTT=1.00000	TTTTTTT=0.00000, TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000	1.0	N/A
European	Sub	6808	TTTTTTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	2490	TTTTTTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	98	TTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	2392	TTTTTTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	104	TTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
East Asian	Sub	80	TTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	134	TTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
Latin American 2	Sub	532	TTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	86	TTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	428	TTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A

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
14KJPN	JAPANESE	Study-wide	28256	(T)₁₄=0.96556	delT=0.03444
8.3KJPN	JAPANESE	Study-wide	16754	(T)₁₄=0.96502	delT=0.03498
Allele Frequency Aggregator	Total	Global	10582	(T)₁₄=1.00000	del(T)₇=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00000, dupTT=0.00000, dupTTT=0.00000, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₆=0.00000, dup(T)₇=0.00000
Allele Frequency Aggregator	European	Sub	6808	(T)₁₄=1.0000	del(T)₇=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000
Allele Frequency Aggregator	African	Sub	2490	(T)₁₄=1.0000	del(T)₇=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	532	(T)₁₄=1.000	del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Other	Sub	428	(T)₁₄=1.000	del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	134	(T)₁₄=1.000	del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Asian	Sub	104	(T)₁₄=1.000	del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	South Asian	Sub	86	(T)₁₄=1.00	del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00
Korean Genome Project	KOREAN	Study-wide	1774	(T)₁₄=0.9402	delT=0.0598
The Danish reference pan genome	Danish	Study-wide	40	(T)₁₄=0.93	delT=0.07

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 18	NC_000018.10:g.706823_706829del
GRCh38.p14 chr 18	NC_000018.10:g.706825_706829del
GRCh38.p14 chr 18	NC_000018.10:g.706826_706829del
GRCh38.p14 chr 18	NC_000018.10:g.706827_706829del
GRCh38.p14 chr 18	NC_000018.10:g.706828_706829del
GRCh38.p14 chr 18	NC_000018.10:g.706829del
GRCh38.p14 chr 18	NC_000018.10:g.706829dup
GRCh38.p14 chr 18	NC_000018.10:g.706828_706829dup
GRCh38.p14 chr 18	NC_000018.10:g.706827_706829dup
GRCh38.p14 chr 18	NC_000018.10:g.706826_706829dup
GRCh38.p14 chr 18	NC_000018.10:g.706825_706829dup
GRCh38.p14 chr 18	NC_000018.10:g.706824_706829dup
GRCh38.p14 chr 18	NC_000018.10:g.706823_706829dup
GRCh38.p14 chr 18	NC_000018.10:g.706829_706830insTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 18	NC_000018.9:g.706823_706829del
GRCh37.p13 chr 18	NC_000018.9:g.706825_706829del
GRCh37.p13 chr 18	NC_000018.9:g.706826_706829del
GRCh37.p13 chr 18	NC_000018.9:g.706827_706829del
GRCh37.p13 chr 18	NC_000018.9:g.706828_706829del
GRCh37.p13 chr 18	NC_000018.9:g.706829del
GRCh37.p13 chr 18	NC_000018.9:g.706829dup
GRCh37.p13 chr 18	NC_000018.9:g.706828_706829dup
GRCh37.p13 chr 18	NC_000018.9:g.706827_706829dup
GRCh37.p13 chr 18	NC_000018.9:g.706826_706829dup
GRCh37.p13 chr 18	NC_000018.9:g.706825_706829dup
GRCh37.p13 chr 18	NC_000018.9:g.706824_706829dup
GRCh37.p13 chr 18	NC_000018.9:g.706823_706829dup
GRCh37.p13 chr 18	NC_000018.9:g.706829_706830insTTTTTTTTTTTTTTTTTTTT

Gene: ENOSF1, enolase superfamily member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ENOSF1 transcript variant 5	NM_001318760.2:c.-461-244… NM_001318760.2:c.-461-244_-461-238del	N/A	Intron Variant
ENOSF1 transcript variant 9	NM_001354065.2:c.-46-244_… NM_001354065.2:c.-46-244_-46-238del	N/A	Intron Variant
ENOSF1 transcript variant 11	NM_001354066.2:c.85-244_8… NM_001354066.2:c.85-244_85-238del	N/A	Intron Variant
ENOSF1 transcript variant 12	NM_001354067.2:c.229-244_… NM_001354067.2:c.229-244_229-238del	N/A	Intron Variant
ENOSF1 transcript variant 13	NM_001354068.2:c.229-244_… NM_001354068.2:c.229-244_229-238del	N/A	Intron Variant
ENOSF1 transcript variant 1	NM_017512.7:c.85-244_85-2… NM_017512.7:c.85-244_85-238del	N/A	Intron Variant
ENOSF1 transcript variant 3	NM_202758.5:c.229-244_229… NM_202758.5:c.229-244_229-238del	N/A	Intron Variant
ENOSF1 transcript variant 2	NR_148706.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 4	NR_148707.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 6	NR_148708.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 7	NR_148709.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 8	NR_148710.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 10	NR_148711.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 14	NR_148712.2:n.	N/A	Intron Variant
ENOSF1 transcript variant X5	XM_024451201.2:c.85-244_8… XM_024451201.2:c.85-244_85-238del	N/A	Intron Variant
ENOSF1 transcript variant X7	XM_024451202.2:c.229-244_… XM_024451202.2:c.229-244_229-238del	N/A	Intron Variant
ENOSF1 transcript variant X9	XM_024451203.2:c.85-244_8… XM_024451203.2:c.85-244_85-238del	N/A	Intron Variant
ENOSF1 transcript variant X15	XM_024451204.2:c.229-244_… XM_024451204.2:c.229-244_229-238del	N/A	Intron Variant
ENOSF1 transcript variant X18	XM_024451208.2:c.84+5682_… XM_024451208.2:c.84+5682_84+5688del	N/A	Intron Variant
ENOSF1 transcript variant X20	XM_024451209.2:c.85-244_8… XM_024451209.2:c.85-244_85-238del	N/A	Intron Variant
ENOSF1 transcript variant X22	XM_024451210.2:c.-46-244_… XM_024451210.2:c.-46-244_-46-238del	N/A	Intron Variant
ENOSF1 transcript variant X10	XM_047437612.1:c.85-244_8… XM_047437612.1:c.85-244_85-238del	N/A	Intron Variant
ENOSF1 transcript variant X13	XM_047437613.1:c.229-244_… XM_047437613.1:c.229-244_229-238del	N/A	Intron Variant
ENOSF1 transcript variant X16	XM_047437614.1:c.85-244_8… XM_047437614.1:c.85-244_85-238del	N/A	Intron Variant
ENOSF1 transcript variant X23	XM_047437615.1:c.229-244_… XM_047437615.1:c.229-244_229-238del	N/A	Intron Variant
ENOSF1 transcript variant X24	XM_047437616.1:c.229-244_… XM_047437616.1:c.229-244_229-238del	N/A	Intron Variant
ENOSF1 transcript variant X27	XM_047437619.1:c.229-244_… XM_047437619.1:c.229-244_229-238del	N/A	Intron Variant
ENOSF1 transcript variant X30	XM_047437621.1:c.-162+568… XM_047437621.1:c.-162+5682_-162+5688del	N/A	Intron Variant
ENOSF1 transcript variant X33	XM_047437622.1:c.229-244_… XM_047437622.1:c.229-244_229-238del	N/A	Intron Variant
ENOSF1 transcript variant X1	XM_047437611.1:c.	N/A	Genic Upstream Transcript Variant
ENOSF1 transcript variant X25	XM_047437617.1:c.	N/A	Genic Upstream Transcript Variant
ENOSF1 transcript variant X26	XM_047437618.1:c.	N/A	Genic Upstream Transcript Variant
ENOSF1 transcript variant X28	XM_047437620.1:c.	N/A	Genic Upstream Transcript Variant
ENOSF1 transcript variant X2	XR_007066181.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X4	XR_007066182.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X6	XR_007066183.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X8	XR_007066184.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X11	XR_007066185.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X12	XR_007066186.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X14	XR_007066187.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X17	XR_007066188.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X19	XR_007066189.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X21	XR_007066190.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X32	XR_007066193.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X3	XR_430041.5:n.	N/A	Intron Variant
ENOSF1 transcript variant X29	XR_007066191.1:n.	N/A	Genic Upstream Transcript Variant
ENOSF1 transcript variant X31	XR_007066192.1:n.	N/A	Genic Upstream 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	(T)₁₄=	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	ins(T)₂₀
GRCh38.p14 chr 18	NC_000018.10:g.706816_706829=	NC_000018.10:g.706823_706829del	NC_000018.10:g.706825_706829del	NC_000018.10:g.706826_706829del	NC_000018.10:g.706827_706829del	NC_000018.10:g.706828_706829del	NC_000018.10:g.706829del	NC_000018.10:g.706829dup	NC_000018.10:g.706828_706829dup	NC_000018.10:g.706827_706829dup	NC_000018.10:g.706826_706829dup	NC_000018.10:g.706825_706829dup	NC_000018.10:g.706824_706829dup	NC_000018.10:g.706823_706829dup	NC_000018.10:g.706829_706830insTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 18	NC_000018.9:g.706816_706829=	NC_000018.9:g.706823_706829del	NC_000018.9:g.706825_706829del	NC_000018.9:g.706826_706829del	NC_000018.9:g.706827_706829del	NC_000018.9:g.706828_706829del	NC_000018.9:g.706829del	NC_000018.9:g.706829dup	NC_000018.9:g.706828_706829dup	NC_000018.9:g.706827_706829dup	NC_000018.9:g.706826_706829dup	NC_000018.9:g.706825_706829dup	NC_000018.9:g.706824_706829dup	NC_000018.9:g.706823_706829dup	NC_000018.9:g.706829_706830insTTTTTTTTTTTTTTTTTTTT
ENOSF1 transcript variant 2	NM_001126123.3:c.-46-238=	NM_001126123.3:c.-46-244_-46-238del	NM_001126123.3:c.-46-242_-46-238del	NM_001126123.3:c.-46-241_-46-238del	NM_001126123.3:c.-46-240_-46-238del	NM_001126123.3:c.-46-239_-46-238del	NM_001126123.3:c.-46-238del	NM_001126123.3:c.-46-238dup	NM_001126123.3:c.-46-239_-46-238dup	NM_001126123.3:c.-46-240_-46-238dup	NM_001126123.3:c.-46-241_-46-238dup	NM_001126123.3:c.-46-242_-46-238dup	NM_001126123.3:c.-46-243_-46-238dup	NM_001126123.3:c.-46-244_-46-238dup	NM_001126123.3:c.-46-238_-46-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant 5	NM_001318760.2:c.-461-238=	NM_001318760.2:c.-461-244_-461-238del	NM_001318760.2:c.-461-242_-461-238del	NM_001318760.2:c.-461-241_-461-238del	NM_001318760.2:c.-461-240_-461-238del	NM_001318760.2:c.-461-239_-461-238del	NM_001318760.2:c.-461-238del	NM_001318760.2:c.-461-238dup	NM_001318760.2:c.-461-239_-461-238dup	NM_001318760.2:c.-461-240_-461-238dup	NM_001318760.2:c.-461-241_-461-238dup	NM_001318760.2:c.-461-242_-461-238dup	NM_001318760.2:c.-461-243_-461-238dup	NM_001318760.2:c.-461-244_-461-238dup	NM_001318760.2:c.-461-238_-461-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant 9	NM_001354065.2:c.-46-238=	NM_001354065.2:c.-46-244_-46-238del	NM_001354065.2:c.-46-242_-46-238del	NM_001354065.2:c.-46-241_-46-238del	NM_001354065.2:c.-46-240_-46-238del	NM_001354065.2:c.-46-239_-46-238del	NM_001354065.2:c.-46-238del	NM_001354065.2:c.-46-238dup	NM_001354065.2:c.-46-239_-46-238dup	NM_001354065.2:c.-46-240_-46-238dup	NM_001354065.2:c.-46-241_-46-238dup	NM_001354065.2:c.-46-242_-46-238dup	NM_001354065.2:c.-46-243_-46-238dup	NM_001354065.2:c.-46-244_-46-238dup	NM_001354065.2:c.-46-238_-46-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant 11	NM_001354066.2:c.85-238=	NM_001354066.2:c.85-244_85-238del	NM_001354066.2:c.85-242_85-238del	NM_001354066.2:c.85-241_85-238del	NM_001354066.2:c.85-240_85-238del	NM_001354066.2:c.85-239_85-238del	NM_001354066.2:c.85-238del	NM_001354066.2:c.85-238dup	NM_001354066.2:c.85-239_85-238dup	NM_001354066.2:c.85-240_85-238dup	NM_001354066.2:c.85-241_85-238dup	NM_001354066.2:c.85-242_85-238dup	NM_001354066.2:c.85-243_85-238dup	NM_001354066.2:c.85-244_85-238dup	NM_001354066.2:c.85-238_85-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant 12	NM_001354067.2:c.229-238=	NM_001354067.2:c.229-244_229-238del	NM_001354067.2:c.229-242_229-238del	NM_001354067.2:c.229-241_229-238del	NM_001354067.2:c.229-240_229-238del	NM_001354067.2:c.229-239_229-238del	NM_001354067.2:c.229-238del	NM_001354067.2:c.229-238dup	NM_001354067.2:c.229-239_229-238dup	NM_001354067.2:c.229-240_229-238dup	NM_001354067.2:c.229-241_229-238dup	NM_001354067.2:c.229-242_229-238dup	NM_001354067.2:c.229-243_229-238dup	NM_001354067.2:c.229-244_229-238dup	NM_001354067.2:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant 13	NM_001354068.2:c.229-238=	NM_001354068.2:c.229-244_229-238del	NM_001354068.2:c.229-242_229-238del	NM_001354068.2:c.229-241_229-238del	NM_001354068.2:c.229-240_229-238del	NM_001354068.2:c.229-239_229-238del	NM_001354068.2:c.229-238del	NM_001354068.2:c.229-238dup	NM_001354068.2:c.229-239_229-238dup	NM_001354068.2:c.229-240_229-238dup	NM_001354068.2:c.229-241_229-238dup	NM_001354068.2:c.229-242_229-238dup	NM_001354068.2:c.229-243_229-238dup	NM_001354068.2:c.229-244_229-238dup	NM_001354068.2:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant 1	NM_017512.5:c.85-238=	NM_017512.5:c.85-244_85-238del	NM_017512.5:c.85-242_85-238del	NM_017512.5:c.85-241_85-238del	NM_017512.5:c.85-240_85-238del	NM_017512.5:c.85-239_85-238del	NM_017512.5:c.85-238del	NM_017512.5:c.85-238dup	NM_017512.5:c.85-239_85-238dup	NM_017512.5:c.85-240_85-238dup	NM_017512.5:c.85-241_85-238dup	NM_017512.5:c.85-242_85-238dup	NM_017512.5:c.85-243_85-238dup	NM_017512.5:c.85-244_85-238dup	NM_017512.5:c.85-238_85-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant 1	NM_017512.7:c.85-238=	NM_017512.7:c.85-244_85-238del	NM_017512.7:c.85-242_85-238del	NM_017512.7:c.85-241_85-238del	NM_017512.7:c.85-240_85-238del	NM_017512.7:c.85-239_85-238del	NM_017512.7:c.85-238del	NM_017512.7:c.85-238dup	NM_017512.7:c.85-239_85-238dup	NM_017512.7:c.85-240_85-238dup	NM_017512.7:c.85-241_85-238dup	NM_017512.7:c.85-242_85-238dup	NM_017512.7:c.85-243_85-238dup	NM_017512.7:c.85-244_85-238dup	NM_017512.7:c.85-238_85-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant 3	NM_202758.3:c.148-238=	NM_202758.3:c.148-244_148-238del	NM_202758.3:c.148-242_148-238del	NM_202758.3:c.148-241_148-238del	NM_202758.3:c.148-240_148-238del	NM_202758.3:c.148-239_148-238del	NM_202758.3:c.148-238del	NM_202758.3:c.148-238dup	NM_202758.3:c.148-239_148-238dup	NM_202758.3:c.148-240_148-238dup	NM_202758.3:c.148-241_148-238dup	NM_202758.3:c.148-242_148-238dup	NM_202758.3:c.148-243_148-238dup	NM_202758.3:c.148-244_148-238dup	NM_202758.3:c.148-238_148-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant 3	NM_202758.5:c.229-238=	NM_202758.5:c.229-244_229-238del	NM_202758.5:c.229-242_229-238del	NM_202758.5:c.229-241_229-238del	NM_202758.5:c.229-240_229-238del	NM_202758.5:c.229-239_229-238del	NM_202758.5:c.229-238del	NM_202758.5:c.229-238dup	NM_202758.5:c.229-239_229-238dup	NM_202758.5:c.229-240_229-238dup	NM_202758.5:c.229-241_229-238dup	NM_202758.5:c.229-242_229-238dup	NM_202758.5:c.229-243_229-238dup	NM_202758.5:c.229-244_229-238dup	NM_202758.5:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X1	XM_005258111.1:c.229-238=	XM_005258111.1:c.229-244_229-238del	XM_005258111.1:c.229-242_229-238del	XM_005258111.1:c.229-241_229-238del	XM_005258111.1:c.229-240_229-238del	XM_005258111.1:c.229-239_229-238del	XM_005258111.1:c.229-238del	XM_005258111.1:c.229-238dup	XM_005258111.1:c.229-239_229-238dup	XM_005258111.1:c.229-240_229-238dup	XM_005258111.1:c.229-241_229-238dup	XM_005258111.1:c.229-242_229-238dup	XM_005258111.1:c.229-243_229-238dup	XM_005258111.1:c.229-244_229-238dup	XM_005258111.1:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X2	XM_005258112.1:c.4-238=	XM_005258112.1:c.4-244_4-238del	XM_005258112.1:c.4-242_4-238del	XM_005258112.1:c.4-241_4-238del	XM_005258112.1:c.4-240_4-238del	XM_005258112.1:c.4-239_4-238del	XM_005258112.1:c.4-238del	XM_005258112.1:c.4-238dup	XM_005258112.1:c.4-239_4-238dup	XM_005258112.1:c.4-240_4-238dup	XM_005258112.1:c.4-241_4-238dup	XM_005258112.1:c.4-242_4-238dup	XM_005258112.1:c.4-243_4-238dup	XM_005258112.1:c.4-244_4-238dup	XM_005258112.1:c.4-238_4-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X3	XM_005258113.1:c.229-238=	XM_005258113.1:c.229-244_229-238del	XM_005258113.1:c.229-242_229-238del	XM_005258113.1:c.229-241_229-238del	XM_005258113.1:c.229-240_229-238del	XM_005258113.1:c.229-239_229-238del	XM_005258113.1:c.229-238del	XM_005258113.1:c.229-238dup	XM_005258113.1:c.229-239_229-238dup	XM_005258113.1:c.229-240_229-238dup	XM_005258113.1:c.229-241_229-238dup	XM_005258113.1:c.229-242_229-238dup	XM_005258113.1:c.229-243_229-238dup	XM_005258113.1:c.229-244_229-238dup	XM_005258113.1:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X4	XM_005258114.1:c.85-238=	XM_005258114.1:c.85-244_85-238del	XM_005258114.1:c.85-242_85-238del	XM_005258114.1:c.85-241_85-238del	XM_005258114.1:c.85-240_85-238del	XM_005258114.1:c.85-239_85-238del	XM_005258114.1:c.85-238del	XM_005258114.1:c.85-238dup	XM_005258114.1:c.85-239_85-238dup	XM_005258114.1:c.85-240_85-238dup	XM_005258114.1:c.85-241_85-238dup	XM_005258114.1:c.85-242_85-238dup	XM_005258114.1:c.85-243_85-238dup	XM_005258114.1:c.85-244_85-238dup	XM_005258114.1:c.85-238_85-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X5	XM_005258115.1:c.-46-238=	XM_005258115.1:c.-46-244_-46-238del	XM_005258115.1:c.-46-242_-46-238del	XM_005258115.1:c.-46-241_-46-238del	XM_005258115.1:c.-46-240_-46-238del	XM_005258115.1:c.-46-239_-46-238del	XM_005258115.1:c.-46-238del	XM_005258115.1:c.-46-238dup	XM_005258115.1:c.-46-239_-46-238dup	XM_005258115.1:c.-46-240_-46-238dup	XM_005258115.1:c.-46-241_-46-238dup	XM_005258115.1:c.-46-242_-46-238dup	XM_005258115.1:c.-46-243_-46-238dup	XM_005258115.1:c.-46-244_-46-238dup	XM_005258115.1:c.-46-238_-46-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X6	XM_005258116.1:c.-46-238=	XM_005258116.1:c.-46-244_-46-238del	XM_005258116.1:c.-46-242_-46-238del	XM_005258116.1:c.-46-241_-46-238del	XM_005258116.1:c.-46-240_-46-238del	XM_005258116.1:c.-46-239_-46-238del	XM_005258116.1:c.-46-238del	XM_005258116.1:c.-46-238dup	XM_005258116.1:c.-46-239_-46-238dup	XM_005258116.1:c.-46-240_-46-238dup	XM_005258116.1:c.-46-241_-46-238dup	XM_005258116.1:c.-46-242_-46-238dup	XM_005258116.1:c.-46-243_-46-238dup	XM_005258116.1:c.-46-244_-46-238dup	XM_005258116.1:c.-46-238_-46-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X9	XM_005258119.1:c.229-238=	XM_005258119.1:c.229-244_229-238del	XM_005258119.1:c.229-242_229-238del	XM_005258119.1:c.229-241_229-238del	XM_005258119.1:c.229-240_229-238del	XM_005258119.1:c.229-239_229-238del	XM_005258119.1:c.229-238del	XM_005258119.1:c.229-238dup	XM_005258119.1:c.229-239_229-238dup	XM_005258119.1:c.229-240_229-238dup	XM_005258119.1:c.229-241_229-238dup	XM_005258119.1:c.229-242_229-238dup	XM_005258119.1:c.229-243_229-238dup	XM_005258119.1:c.229-244_229-238dup	XM_005258119.1:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X5	XM_024451201.2:c.85-238=	XM_024451201.2:c.85-244_85-238del	XM_024451201.2:c.85-242_85-238del	XM_024451201.2:c.85-241_85-238del	XM_024451201.2:c.85-240_85-238del	XM_024451201.2:c.85-239_85-238del	XM_024451201.2:c.85-238del	XM_024451201.2:c.85-238dup	XM_024451201.2:c.85-239_85-238dup	XM_024451201.2:c.85-240_85-238dup	XM_024451201.2:c.85-241_85-238dup	XM_024451201.2:c.85-242_85-238dup	XM_024451201.2:c.85-243_85-238dup	XM_024451201.2:c.85-244_85-238dup	XM_024451201.2:c.85-238_85-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X7	XM_024451202.2:c.229-238=	XM_024451202.2:c.229-244_229-238del	XM_024451202.2:c.229-242_229-238del	XM_024451202.2:c.229-241_229-238del	XM_024451202.2:c.229-240_229-238del	XM_024451202.2:c.229-239_229-238del	XM_024451202.2:c.229-238del	XM_024451202.2:c.229-238dup	XM_024451202.2:c.229-239_229-238dup	XM_024451202.2:c.229-240_229-238dup	XM_024451202.2:c.229-241_229-238dup	XM_024451202.2:c.229-242_229-238dup	XM_024451202.2:c.229-243_229-238dup	XM_024451202.2:c.229-244_229-238dup	XM_024451202.2:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X9	XM_024451203.2:c.85-238=	XM_024451203.2:c.85-244_85-238del	XM_024451203.2:c.85-242_85-238del	XM_024451203.2:c.85-241_85-238del	XM_024451203.2:c.85-240_85-238del	XM_024451203.2:c.85-239_85-238del	XM_024451203.2:c.85-238del	XM_024451203.2:c.85-238dup	XM_024451203.2:c.85-239_85-238dup	XM_024451203.2:c.85-240_85-238dup	XM_024451203.2:c.85-241_85-238dup	XM_024451203.2:c.85-242_85-238dup	XM_024451203.2:c.85-243_85-238dup	XM_024451203.2:c.85-244_85-238dup	XM_024451203.2:c.85-238_85-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X15	XM_024451204.2:c.229-238=	XM_024451204.2:c.229-244_229-238del	XM_024451204.2:c.229-242_229-238del	XM_024451204.2:c.229-241_229-238del	XM_024451204.2:c.229-240_229-238del	XM_024451204.2:c.229-239_229-238del	XM_024451204.2:c.229-238del	XM_024451204.2:c.229-238dup	XM_024451204.2:c.229-239_229-238dup	XM_024451204.2:c.229-240_229-238dup	XM_024451204.2:c.229-241_229-238dup	XM_024451204.2:c.229-242_229-238dup	XM_024451204.2:c.229-243_229-238dup	XM_024451204.2:c.229-244_229-238dup	XM_024451204.2:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X18	XM_024451208.2:c.84+5688=	XM_024451208.2:c.84+5682_84+5688del	XM_024451208.2:c.84+5684_84+5688del	XM_024451208.2:c.84+5685_84+5688del	XM_024451208.2:c.84+5686_84+5688del	XM_024451208.2:c.84+5687_84+5688del	XM_024451208.2:c.84+5688del	XM_024451208.2:c.84+5688dup	XM_024451208.2:c.84+5687_84+5688dup	XM_024451208.2:c.84+5686_84+5688dup	XM_024451208.2:c.84+5685_84+5688dup	XM_024451208.2:c.84+5684_84+5688dup	XM_024451208.2:c.84+5683_84+5688dup	XM_024451208.2:c.84+5682_84+5688dup	XM_024451208.2:c.84+5688_84+5689insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X20	XM_024451209.2:c.85-238=	XM_024451209.2:c.85-244_85-238del	XM_024451209.2:c.85-242_85-238del	XM_024451209.2:c.85-241_85-238del	XM_024451209.2:c.85-240_85-238del	XM_024451209.2:c.85-239_85-238del	XM_024451209.2:c.85-238del	XM_024451209.2:c.85-238dup	XM_024451209.2:c.85-239_85-238dup	XM_024451209.2:c.85-240_85-238dup	XM_024451209.2:c.85-241_85-238dup	XM_024451209.2:c.85-242_85-238dup	XM_024451209.2:c.85-243_85-238dup	XM_024451209.2:c.85-244_85-238dup	XM_024451209.2:c.85-238_85-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X22	XM_024451210.2:c.-46-238=	XM_024451210.2:c.-46-244_-46-238del	XM_024451210.2:c.-46-242_-46-238del	XM_024451210.2:c.-46-241_-46-238del	XM_024451210.2:c.-46-240_-46-238del	XM_024451210.2:c.-46-239_-46-238del	XM_024451210.2:c.-46-238del	XM_024451210.2:c.-46-238dup	XM_024451210.2:c.-46-239_-46-238dup	XM_024451210.2:c.-46-240_-46-238dup	XM_024451210.2:c.-46-241_-46-238dup	XM_024451210.2:c.-46-242_-46-238dup	XM_024451210.2:c.-46-243_-46-238dup	XM_024451210.2:c.-46-244_-46-238dup	XM_024451210.2:c.-46-238_-46-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X10	XM_047437612.1:c.85-238=	XM_047437612.1:c.85-244_85-238del	XM_047437612.1:c.85-242_85-238del	XM_047437612.1:c.85-241_85-238del	XM_047437612.1:c.85-240_85-238del	XM_047437612.1:c.85-239_85-238del	XM_047437612.1:c.85-238del	XM_047437612.1:c.85-238dup	XM_047437612.1:c.85-239_85-238dup	XM_047437612.1:c.85-240_85-238dup	XM_047437612.1:c.85-241_85-238dup	XM_047437612.1:c.85-242_85-238dup	XM_047437612.1:c.85-243_85-238dup	XM_047437612.1:c.85-244_85-238dup	XM_047437612.1:c.85-238_85-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X13	XM_047437613.1:c.229-238=	XM_047437613.1:c.229-244_229-238del	XM_047437613.1:c.229-242_229-238del	XM_047437613.1:c.229-241_229-238del	XM_047437613.1:c.229-240_229-238del	XM_047437613.1:c.229-239_229-238del	XM_047437613.1:c.229-238del	XM_047437613.1:c.229-238dup	XM_047437613.1:c.229-239_229-238dup	XM_047437613.1:c.229-240_229-238dup	XM_047437613.1:c.229-241_229-238dup	XM_047437613.1:c.229-242_229-238dup	XM_047437613.1:c.229-243_229-238dup	XM_047437613.1:c.229-244_229-238dup	XM_047437613.1:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X16	XM_047437614.1:c.85-238=	XM_047437614.1:c.85-244_85-238del	XM_047437614.1:c.85-242_85-238del	XM_047437614.1:c.85-241_85-238del	XM_047437614.1:c.85-240_85-238del	XM_047437614.1:c.85-239_85-238del	XM_047437614.1:c.85-238del	XM_047437614.1:c.85-238dup	XM_047437614.1:c.85-239_85-238dup	XM_047437614.1:c.85-240_85-238dup	XM_047437614.1:c.85-241_85-238dup	XM_047437614.1:c.85-242_85-238dup	XM_047437614.1:c.85-243_85-238dup	XM_047437614.1:c.85-244_85-238dup	XM_047437614.1:c.85-238_85-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X23	XM_047437615.1:c.229-238=	XM_047437615.1:c.229-244_229-238del	XM_047437615.1:c.229-242_229-238del	XM_047437615.1:c.229-241_229-238del	XM_047437615.1:c.229-240_229-238del	XM_047437615.1:c.229-239_229-238del	XM_047437615.1:c.229-238del	XM_047437615.1:c.229-238dup	XM_047437615.1:c.229-239_229-238dup	XM_047437615.1:c.229-240_229-238dup	XM_047437615.1:c.229-241_229-238dup	XM_047437615.1:c.229-242_229-238dup	XM_047437615.1:c.229-243_229-238dup	XM_047437615.1:c.229-244_229-238dup	XM_047437615.1:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X24	XM_047437616.1:c.229-238=	XM_047437616.1:c.229-244_229-238del	XM_047437616.1:c.229-242_229-238del	XM_047437616.1:c.229-241_229-238del	XM_047437616.1:c.229-240_229-238del	XM_047437616.1:c.229-239_229-238del	XM_047437616.1:c.229-238del	XM_047437616.1:c.229-238dup	XM_047437616.1:c.229-239_229-238dup	XM_047437616.1:c.229-240_229-238dup	XM_047437616.1:c.229-241_229-238dup	XM_047437616.1:c.229-242_229-238dup	XM_047437616.1:c.229-243_229-238dup	XM_047437616.1:c.229-244_229-238dup	XM_047437616.1:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X27	XM_047437619.1:c.229-238=	XM_047437619.1:c.229-244_229-238del	XM_047437619.1:c.229-242_229-238del	XM_047437619.1:c.229-241_229-238del	XM_047437619.1:c.229-240_229-238del	XM_047437619.1:c.229-239_229-238del	XM_047437619.1:c.229-238del	XM_047437619.1:c.229-238dup	XM_047437619.1:c.229-239_229-238dup	XM_047437619.1:c.229-240_229-238dup	XM_047437619.1:c.229-241_229-238dup	XM_047437619.1:c.229-242_229-238dup	XM_047437619.1:c.229-243_229-238dup	XM_047437619.1:c.229-244_229-238dup	XM_047437619.1:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X30	XM_047437621.1:c.-162+5688=	XM_047437621.1:c.-162+5682_-162+5688del	XM_047437621.1:c.-162+5684_-162+5688del	XM_047437621.1:c.-162+5685_-162+5688del	XM_047437621.1:c.-162+5686_-162+5688del	XM_047437621.1:c.-162+5687_-162+5688del	XM_047437621.1:c.-162+5688del	XM_047437621.1:c.-162+5688dup	XM_047437621.1:c.-162+5687_-162+5688dup	XM_047437621.1:c.-162+5686_-162+5688dup	XM_047437621.1:c.-162+5685_-162+5688dup	XM_047437621.1:c.-162+5684_-162+5688dup	XM_047437621.1:c.-162+5683_-162+5688dup	XM_047437621.1:c.-162+5682_-162+5688dup	XM_047437621.1:c.-162+5688_-162+5689insAAAAAAAAAAAAAAAAAAAA
ENOSF1 transcript variant X33	XM_047437622.1:c.229-238=	XM_047437622.1:c.229-244_229-238del	XM_047437622.1:c.229-242_229-238del	XM_047437622.1:c.229-241_229-238del	XM_047437622.1:c.229-240_229-238del	XM_047437622.1:c.229-239_229-238del	XM_047437622.1:c.229-238del	XM_047437622.1:c.229-238dup	XM_047437622.1:c.229-239_229-238dup	XM_047437622.1:c.229-240_229-238dup	XM_047437622.1:c.229-241_229-238dup	XM_047437622.1:c.229-242_229-238dup	XM_047437622.1:c.229-243_229-238dup	XM_047437622.1:c.229-244_229-238dup	XM_047437622.1:c.229-238_229-237insAAAAAAAAAAAAAAAAAAAA

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#.

20 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95965767	Feb 13, 2009 (130)
2	BUSHMAN	ss193465625	Jul 04, 2010 (132)
3	EVA_GENOME_DK	ss1575102304	Apr 01, 2015 (144)
4	ACPOP	ss3742283795	Jul 13, 2019 (153)
5	ACPOP	ss3742283796	Jul 13, 2019 (153)
6	ACPOP	ss3742283797	Jul 13, 2019 (153)
7	KOGIC	ss3979461066	Apr 27, 2020 (154)
8	GNOMAD	ss4316913525	Apr 27, 2021 (155)
9	GNOMAD	ss4316913547	Apr 27, 2021 (155)
10	GNOMAD	ss4316913548	Apr 27, 2021 (155)
11	GNOMAD	ss4316913549	Apr 27, 2021 (155)
12	GNOMAD	ss4316913550	Apr 27, 2021 (155)
13	GNOMAD	ss4316913551	Apr 27, 2021 (155)
14	GNOMAD	ss4316913552	Apr 27, 2021 (155)
15	GNOMAD	ss4316913553	Apr 27, 2021 (155)
16	GNOMAD	ss4316913554	Apr 27, 2021 (155)
17	GNOMAD	ss4316913555	Apr 27, 2021 (155)
18	TOMMO_GENOMICS	ss5223837048	Apr 27, 2021 (155)
19	TOMMO_GENOMICS	ss5780512973	Oct 16, 2022 (156)
20	EVA	ss5980991006	Oct 16, 2022 (156)
21	The Danish reference pan genome	NC_000018.9 - 706816	Apr 27, 2020 (154)
22	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515947553 (NC_000018.10:706815::T 1247/117636) Row 515947575 (NC_000018.10:706815::TT 504/117650) Row 515947576 (NC_000018.10:706815::TTT 123/117650)...	-	Apr 27, 2021 (155)
23	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515947553 (NC_000018.10:706815::T 1247/117636) Row 515947575 (NC_000018.10:706815::TT 504/117650) Row 515947576 (NC_000018.10:706815::TTT 123/117650)...	-	Apr 27, 2021 (155)
24	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515947553 (NC_000018.10:706815::T 1247/117636) Row 515947575 (NC_000018.10:706815::TT 504/117650) Row 515947576 (NC_000018.10:706815::TTT 123/117650)...	-	Apr 27, 2021 (155)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515947553 (NC_000018.10:706815::T 1247/117636) Row 515947575 (NC_000018.10:706815::TT 504/117650) Row 515947576 (NC_000018.10:706815::TTT 123/117650)...	-	Apr 27, 2021 (155)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515947553 (NC_000018.10:706815::T 1247/117636) Row 515947575 (NC_000018.10:706815::TT 504/117650) Row 515947576 (NC_000018.10:706815::TTT 123/117650)...	-	Apr 27, 2021 (155)
27	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515947553 (NC_000018.10:706815::T 1247/117636) Row 515947575 (NC_000018.10:706815::TT 504/117650) Row 515947576 (NC_000018.10:706815::TTT 123/117650)...	-	Apr 27, 2021 (155)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515947553 (NC_000018.10:706815::T 1247/117636) Row 515947575 (NC_000018.10:706815::TT 504/117650) Row 515947576 (NC_000018.10:706815::TTT 123/117650)...	-	Apr 27, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515947553 (NC_000018.10:706815::T 1247/117636) Row 515947575 (NC_000018.10:706815::TT 504/117650) Row 515947576 (NC_000018.10:706815::TTT 123/117650)...	-	Apr 27, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515947553 (NC_000018.10:706815::T 1247/117636) Row 515947575 (NC_000018.10:706815::TT 504/117650) Row 515947576 (NC_000018.10:706815::TTT 123/117650)...	-	Apr 27, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515947553 (NC_000018.10:706815::T 1247/117636) Row 515947575 (NC_000018.10:706815::TT 504/117650) Row 515947576 (NC_000018.10:706815::TTT 123/117650)...	-	Apr 27, 2021 (155)
32	Korean Genome Project	NC_000018.10 - 706816	Apr 27, 2020 (154)
33	Northern Sweden Submission ignored due to conflicting rows: Row 15568660 (NC_000018.9:706815::TTTT 37/594) Row 15568661 (NC_000018.9:706815:T: 12/594) Row 15568662 (NC_000018.9:706815::T 13/594)	-	Jul 13, 2019 (153)
34	Northern Sweden Submission ignored due to conflicting rows: Row 15568660 (NC_000018.9:706815::TTTT 37/594) Row 15568661 (NC_000018.9:706815:T: 12/594) Row 15568662 (NC_000018.9:706815::T 13/594)	-	Jul 13, 2019 (153)
35	Northern Sweden Submission ignored due to conflicting rows: Row 15568660 (NC_000018.9:706815::TTTT 37/594) Row 15568661 (NC_000018.9:706815:T: 12/594) Row 15568662 (NC_000018.9:706815::T 13/594)	-	Jul 13, 2019 (153)
36	8.3KJPN	NC_000018.9 - 706816	Apr 27, 2021 (155)
37	14KJPN	NC_000018.10 - 706816	Oct 16, 2022 (156)
38	ALFA	NC_000018.10 - 706816	Apr 27, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTT	(self)
ss4316913555	NC_000018.10:706815:TTTTT:	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4316913554	NC_000018.10:706815:TTT:	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss193465625	NT_010859.15:696815:TTT:	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4316913553	NC_000018.10:706815:TT:	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
580312, 81806355, ss1575102304, ss3742283796, ss5223837048	NC_000018.9:706815:T:	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
35839067, 114350077, ss3979461066, ss4316913552, ss5780512973	NC_000018.10:706815:T:	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3742283797	NC_000018.9:706815::T	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4316913525	NC_000018.10:706815::T	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4316913547	NC_000018.10:706815::TT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4316913548	NC_000018.10:706815::TTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3742283795, ss5980991006	NC_000018.9:706815::TTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4316913549	NC_000018.10:706815::TTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss95965767	NT_010859.14:696819:T:TTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4316913550	NC_000018.10:706815::TTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
8166648414	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4316913551	NC_000018.10:706815::TTTTTTTTTTTTT… NC_000018.10:706815::TTTTTTTTTTTTTTTTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3270679635	NC_000018.10:706815::TTTTTT	NC_000018.10:706815:TTTTTTTTTTTTTT… NC_000018.10:706815:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

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

No publications for rs71297337

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

rs71297337