Canonical Allele Identifier: CA549707910

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2194621
• ClinVar RCV Id: RCV002637238
• dbSNP Id: rs781262017
• gnomAD v2: 4-6303036-G-GCCTGCTCTATGTCTA
• gnomAD v4: 4-6301309-G-GCCTGCTCTATGTCTA
• MyVariant Identifiers: chr4:g.6303051_6303052insCCTGCTCTATGTCTA (hg19) ; chr4:g.6301324_6301325insCCTGCTCTATGTCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301320_6301334dup , CM000666.2:g.6301320_6301334dup	GRCh38
NC_000004.11:g.6303047_6303061dup , CM000666.1:g.6303047_6303061dup	GRCh37
NC_000004.10:g.6353948_6353962dup	NCBI36
NG_011700.1:g.36471_36485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1561_1575dup	ENSP00000507852.1:p.Tyr525_Leu526insValTyrLeuLeuTyr
ENST00000683395.1:c.1502_1516dup
ENST00000684087.1:c.1525_1539dup	ENSP00000506978.1:p.Tyr513_Leu514insValTyrLeuLeuTyr
ENST00000506362.2:c.1276_1290dup	ENSP00000424103.2:p.Tyr430_Leu431insValTyrLeuLeuTyr
ENST00000673642.1:c.1184_1198dup	ENSP00000501242.1:p.Leu399_Ser400insCysLeuProAlaLeu
ENST00000673991.1:c.1561_1575dup	ENSP00000501033.1:p.Tyr525_Leu526insValTyrLeuLeuTyr
ENST00000226760.5:c.1525_1539dup MANE Select	ENSP00000226760.1:p.Tyr513_Leu514insValTyrLeuLeuTyr
ENST00000503569.5:c.1525_1539dup	ENSP00000423337.1:p.Tyr513_Leu514insValTyrLeuLeuTyr
ENST00000507765.1:n.1710_1724dup
NM_001145853.1:c.1525_1539dup	NP_001139325.1:p.Tyr513_Leu514insValTyrLeuLeuTyr
NM_006005.3:c.1525_1539dup MANE Select	NP_005996.2:p.Tyr513_Leu514insValTyrLeuLeuTyr
XM_017008586.1:c.1534_1548dup	XP_016864075.1:p.Tyr516_Leu517insValTyrLeuLeuTyr