Canonical Allele Identifier: CA2839205
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 228420
ClinVar RCV Id: RCV000215662 RCV000599633 RCV001174417
dbSNP Id: rs876657735
ExAC: 4:6302580 CCTT / C
gnomAD v2: 4-6302580-CCTT-C
gnomAD v3: 4-6300853-CCTT-C
gnomAD v4: 4-6300853-CCTT-C
MyVariant Identifiers: chr4:g.6302582_6302584del (hg19) chr4:g.6302581_6302583del (hg19) chr4:g.6300855_6300857del (hg38) chr4:g.6300854_6300856del (hg38)
PubMed: PMID:10521293 PMID:11161832 PMID:19042979 PMID:22238590 PMID:24890733
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300855_6300857del , CM000666.2:g.6300855_6300857del GRCh38
NC_000004.11:g.6302582_6302584del , CM000666.1:g.6302582_6302584del GRCh37
NC_000004.10:g.6353483_6353485del NCBI36
NG_011700.1:g.36006_36008del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1096_1098del ENSP00000507852.1:p.Phe366del
ENST00000683395.1:c.1037_1039del
ENST00000684087.1:c.1060_1062del ENSP00000506978.1:p.Phe354del
ENST00000506362.2:c.811_813del ENSP00000424103.2:p.Phe271del
ENST00000673642.1:c.719_721del ENSP00000501242.1:p.Leu240del
ENST00000673991.1:c.1096_1098del ENSP00000501033.1:p.Phe366del
ENST00000226760.5:c.1060_1062del MANE Select ENSP00000226760.1:p.Phe354del
ENST00000503569.5:c.1060_1062del ENSP00000423337.1:p.Phe354del
ENST00000506362.1:c.693_695del
ENST00000507765.1:n.1245_1247del
NM_001145853.1:c.1060_1062del NP_001139325.1:p.Phe354del
NM_006005.3:c.1060_1062del MANE Select NP_005996.2:p.Phe354del
XM_017008586.1:c.1069_1071del XP_016864075.1:p.Phe357del
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