Canonical Allele Identifier: CA2669843420

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301039-T-TCATCTTCTCCTTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301044_6301058dup , CM000666.2:g.6301044_6301058dup	GRCh38
NC_000004.11:g.6302771_6302785dup , CM000666.1:g.6302771_6302785dup	GRCh37
NC_000004.10:g.6353672_6353686dup	NCBI36
NG_011700.1:g.36195_36209dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1285_1299dup	ENSP00000507852.1:p.Ile433_Ala434insPheSerPheProIle
ENST00000683395.1:c.1226_1240dup
ENST00000684087.1:c.1249_1263dup	ENSP00000506978.1:p.Ile421_Ala422insPheSerPheProIle
ENST00000506362.2:c.1000_1014dup	ENSP00000424103.2:p.Ile338_Ala339insPheSerPheProIle
ENST00000673642.1:c.908_922dup	ENSP00000501242.1:p.His307_Arg308insLeuLeuLeuProHis
ENST00000673991.1:c.1285_1299dup	ENSP00000501033.1:p.Ile433_Ala434insPheSerPheProIle
ENST00000226760.5:c.1249_1263dup MANE Select	ENSP00000226760.1:p.Ile421_Ala422insPheSerPheProIle
ENST00000503569.5:c.1249_1263dup	ENSP00000423337.1:p.Ile421_Ala422insPheSerPheProIle
ENST00000507765.1:n.1434_1448dup
NM_001145853.1:c.1249_1263dup	NP_001139325.1:p.Ile421_Ala422insPheSerPheProIle
NM_006005.3:c.1249_1263dup MANE Select	NP_005996.2:p.Ile421_Ala422insPheSerPheProIle
XM_017008586.1:c.1258_1272dup	XP_016864075.1:p.Ile424_Ala425insPheSerPheProIle