Canonical Allele Identifier: CA1058893112

Gene: WFS1

Linked Data

• gnomAD v3: 4-6302616-C-CTCG
• gnomAD v4: 4-6302616-C-CTCG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302616_6302617insTCG , CM000666.2:g.6302616_6302617insTCG	GRCh38
NC_000004.11:g.6304343_6304344insTCG , CM000666.1:g.6304343_6304344insTCG	GRCh37
NC_000004.10:g.6355244_6355245insTCG	NCBI36
NG_011700.1:g.37767_37768insTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*148_*149insTCG	ENSP00000507852.1:n.*148_*149insTCG
ENST00000683395.1:c.2798_2799insTCG
ENST00000684087.1:c.*148_*149insTCG	ENSP00000506978.1:n.*148_*149insTCG
ENST00000506362.2:c.*148_*149insTCG	ENSP00000424103.2:n.*148_*149insTCG
ENST00000673991.1:c.*148_*149insTCG	ENSP00000501033.1:n.*148_*149insTCG
ENST00000226760.5:c.*148_*149insTCG MANE Select	ENSP00000226760.1:n.*148_*149insTCG
ENST00000503569.5:c.*148_*149insTCG	ENSP00000423337.1:n.*148_*149insTCG
ENST00000507765.1:n.3006_3007insTCG
NM_001145853.1:c.*148_*149insTCG	NP_001139325.1:n.*148_*149insTCG
NM_006005.3:c.*148_*149insTCG MANE Select	NP_005996.2:n.*148_*149insTCG
XM_017008586.1:c.*148_*149insTCG	XP_016864075.1:n.*148_*149insTCG