Canonical Allele Identifier: CA1058893161
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1730998676
gnomAD v3: 4-6302636-A-AG
gnomAD v4: 4-6302636-A-AG

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302638dup , CM000666.2:g.6302638dup GRCh38
NC_000004.11:g.6304365dup , CM000666.1:g.6304365dup GRCh37
NC_000004.10:g.6355266dup NCBI36
NG_011700.1:g.37789dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*170dup ENSP00000507852.1:n.*170dup
ENST00000683395.1:c.2820dup
ENST00000684087.1:c.*170dup ENSP00000506978.1:n.*170dup
ENST00000506362.2:c.*170dup ENSP00000424103.2:n.*170dup
ENST00000673991.1:c.*170dup ENSP00000501033.1:n.*170dup
ENST00000226760.5:c.*170dup MANE Select ENSP00000226760.1:n.*170dup
ENST00000503569.5:c.*170dup ENSP00000423337.1:n.*170dup
ENST00000507765.1:n.3028dup
NM_001145853.1:c.*170dup NP_001139325.1:n.*170dup
NM_006005.3:c.*170dup MANE Select NP_005996.2:n.*170dup
XM_017008586.1:c.*170dup XP_016864075.1:n.*170dup