Canonical Allele Identifier: CA2839454

Gene: WFS1

Linked Data

• dbSNP Id: rs745734152
• ExAC: 4:6303224 T / TTTGCCCTCCC
• gnomAD v2: 4-6303224-T-TTTGCCCTCCC
• gnomAD v4: 4-6301497-T-TTTGCCCTCCC
• MyVariant Identifiers: chr4:g.6303224_6303225insTTGCCCTCCC (hg19) ; chr4:g.6301497_6301498insTTGCCCTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301498_6301507dup , CM000666.2:g.6301498_6301507dup	GRCh38
NC_000004.11:g.6303225_6303234dup , CM000666.1:g.6303225_6303234dup	GRCh37
NC_000004.10:g.6354126_6354135dup	NCBI36
NG_011700.1:g.36649_36658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1739_1748dup	ENSP00000507852.1:p.Ile584CysfsTer?
ENST00000683395.1:c.1680_1689dup
ENST00000684087.1:c.1703_1712dup	ENSP00000506978.1:p.Ile572CysfsTer?
ENST00000506362.2:c.1454_1463dup	ENSP00000424103.2:p.Ile489CysfsTer?
ENST00000673642.1:c.1362_1371dup	ENSP00000501242.1:n.1362_1371dup
ENST00000673991.1:c.1739_1748dup	ENSP00000501033.1:p.Ile584CysfsTer?
ENST00000226760.5:c.1703_1712dup MANE Select	ENSP00000226760.1:p.Ile572CysfsTer?
ENST00000503569.5:c.1703_1712dup	ENSP00000423337.1:p.Ile572CysfsTer?
ENST00000507765.1:n.1888_1897dup
NM_001145853.1:c.1703_1712dup	NP_001139325.1:p.Ile572CysfsTer?
NM_006005.3:c.1703_1712dup MANE Select	NP_005996.2:p.Ile572CysfsTer?
XM_017008586.1:c.1712_1721dup	XP_016864075.1:p.Ile575CysfsTer?