Canonical Allele Identifier: CA1058891765

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2418917
• ClinVar RCV Id: RCV003112161
• dbSNP Id: rs1730907876
• gnomAD v3: 4-6301455-CTGGGGCTGCTCCGCGCCTCCATCGGCT-C
• gnomAD v4: 4-6301455-CTGGGGCTGCTCCGCGCCTCCATCGGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301456_6301482del , CM000666.2:g.6301456_6301482del	GRCh38
NC_000004.11:g.6303183_6303209del , CM000666.1:g.6303183_6303209del	GRCh37
NC_000004.10:g.6354084_6354110del	NCBI36
NG_011700.1:g.36607_36633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1697_1723del	ENSP00000507852.1:p.Leu566_Tyr575delinsHis
ENST00000683395.1:c.1638_1664del
ENST00000684087.1:c.1661_1687del	ENSP00000506978.1:p.Leu554_Tyr563delinsHis
ENST00000506362.2:c.1412_1438del	ENSP00000424103.2:p.Leu471_Tyr480delinsHis
ENST00000673642.1:c.1320_1346del	ENSP00000501242.1:n.1320_1346del
ENST00000673991.1:c.1697_1723del	ENSP00000501033.1:p.Leu566_Tyr575delinsHis
ENST00000226760.5:c.1661_1687del MANE Select	ENSP00000226760.1:p.Leu554_Tyr563delinsHis
ENST00000503569.5:c.1661_1687del	ENSP00000423337.1:p.Leu554_Tyr563delinsHis
ENST00000507765.1:n.1846_1872del
NM_001145853.1:c.1661_1687del	NP_001139325.1:p.Leu554_Tyr563delinsHis
NM_006005.3:c.1661_1687del MANE Select	NP_005996.2:p.Leu554_Tyr563delinsHis
XM_017008586.1:c.1670_1696del	XP_016864075.1:p.Leu557_Tyr566delinsHis