Canonical Allele Identifier: CA2578035827
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6302512-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302514dup , CM000666.2:g.6302514dup GRCh38
NC_000004.11:g.6304241dup , CM000666.1:g.6304241dup GRCh37
NC_000004.10:g.6355142dup NCBI36
NG_011700.1:g.37665dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*46dup ENSP00000507852.1:n.*46dup
ENST00000683395.1:c.2696dup
ENST00000684087.1:c.*46dup ENSP00000506978.1:n.*46dup
ENST00000506362.2:c.*46dup ENSP00000424103.2:n.*46dup
ENST00000673991.1:c.*46dup ENSP00000501033.1:n.*46dup
ENST00000226760.5:c.*46dup MANE Select ENSP00000226760.1:n.*46dup
ENST00000503569.5:c.*46dup ENSP00000423337.1:n.*46dup
ENST00000507765.1:n.2904dup
NM_001145853.1:c.*46dup NP_001139325.1:n.*46dup
NM_006005.3:c.*46dup MANE Select NP_005996.2:n.*46dup
XM_017008586.1:c.*46dup XP_016864075.1:n.*46dup