Canonical Allele Identifier: CA2669843441

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301307-G-GTGCCTGCTCTATGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301309_6301323dup , CM000666.2:g.6301309_6301323dup	GRCh38
NC_000004.11:g.6303036_6303050dup , CM000666.1:g.6303036_6303050dup	GRCh37
NC_000004.10:g.6353937_6353951dup	NCBI36
NG_011700.1:g.36460_36474dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1550_1564dup	ENSP00000507852.1:p.Val521_Tyr522insCysLeuLeuTyrVal
ENST00000683395.1:c.1491_1505dup
ENST00000684087.1:c.1514_1528dup	ENSP00000506978.1:p.Val509_Tyr510insCysLeuLeuTyrVal
ENST00000506362.2:c.1265_1279dup	ENSP00000424103.2:p.Val426_Tyr427insCysLeuLeuTyrVal
ENST00000673642.1:c.1173_1187dup	ENSP00000501242.1:p.Leu396_Pro397insProAlaLeuCysLeu
ENST00000673991.1:c.1550_1564dup	ENSP00000501033.1:p.Val521_Tyr522insCysLeuLeuTyrVal
ENST00000226760.5:c.1514_1528dup MANE Select	ENSP00000226760.1:p.Val509_Tyr510insCysLeuLeuTyrVal
ENST00000503569.5:c.1514_1528dup	ENSP00000423337.1:p.Val509_Tyr510insCysLeuLeuTyrVal
ENST00000507765.1:n.1699_1713dup
NM_001145853.1:c.1514_1528dup	NP_001139325.1:p.Val509_Tyr510insCysLeuLeuTyrVal
NM_006005.3:c.1514_1528dup MANE Select	NP_005996.2:p.Val509_Tyr510insCysLeuLeuTyrVal
XM_017008586.1:c.1523_1537dup	XP_016864075.1:p.Val512_Tyr513insCysLeuLeuTyrVal