Canonical Allele Identifier: CA2669844008
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6302989-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302993dup , CM000666.2:g.6302993dup GRCh38
NC_000004.11:g.6304720dup , CM000666.1:g.6304720dup GRCh37
NC_000004.10:g.6355621dup NCBI36
NG_011700.1:g.38144dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*525dup ENSP00000507852.1:n.*525dup
ENST00000683395.1:c.3175dup
ENST00000684087.1:c.*525dup ENSP00000506978.1:n.*525dup
ENST00000673991.1:c.*525dup ENSP00000501033.1:n.*525dup
ENST00000226760.5:c.*525dup MANE Select ENSP00000226760.1:n.*525dup
ENST00000507765.1:n.3383dup
NM_001145853.1:c.*525dup NP_001139325.1:n.*525dup
NM_006005.3:c.*525dup MANE Select NP_005996.2:n.*525dup
XM_017008586.1:c.*525dup XP_016864075.1:n.*525dup
XR_001741566.2:n.1955dup