Canonical Allele Identifier: CA2591901837

Gene: WFS1

Linked Data

• dbSNP Id: rs2109128750
• gnomAD v3: 4-6303059-TCATGACCCTCCTGTC-T
• gnomAD v4: 4-6303059-TCATGACCCTCCTGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6303062_6303076del , CM000666.2:g.6303062_6303076del	GRCh38
NC_000004.11:g.6304789_6304803del , CM000666.1:g.6304789_6304803del	GRCh37
NC_000004.10:g.6355690_6355704del	NCBI36
NG_011700.1:g.38213_38227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*594_*608del	ENSP00000507852.1:n.*594_*608del
ENST00000683395.1:c.3244_3258del
ENST00000684087.1:c.*594_*608del	ENSP00000506978.1:n.*594_*608del
ENST00000673991.1:c.*594_*608del	ENSP00000501033.1:n.*594_*608del
ENST00000226760.5:c.*594_*608del MANE Select	ENSP00000226760.1:n.*594_*608del
ENST00000507765.1:n.3452_3466del
NM_001145853.1:c.*594_*608del	NP_001139325.1:n.*594_*608del
NM_006005.3:c.*594_*608del MANE Select	NP_005996.2:n.*594_*608del
XM_017008586.1:c.*594_*608del	XP_016864075.1:n.*594_*608del
XR_001741566.2:n.1871_1885del