Canonical Allele Identifier: CA1058892891
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v3: 4-6302396-G-GT
gnomAD v4: 4-6302396-G-GT

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302396_6302397insT , CM000666.2:g.6302396_6302397insT GRCh38
NC_000004.11:g.6304123_6304124insT , CM000666.1:g.6304123_6304124insT GRCh37
NC_000004.10:g.6355024_6355025insT NCBI36
NG_011700.1:g.37547_37548insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2637_2638insT ENSP00000507852.1:p.Arg880SerfsTer?
ENST00000683395.1:c.2578_2579insT
ENST00000684087.1:c.2601_2602insT ENSP00000506978.1:p.Arg868SerfsTer?
ENST00000506362.2:c.2352_2353insT ENSP00000424103.2:p.Arg785SerfsTer?
ENST00000673991.1:c.2637_2638insT ENSP00000501033.1:p.Arg880SerfsTer?
ENST00000226760.5:c.2601_2602insT MANE Select ENSP00000226760.1:p.Arg868SerfsTer?
ENST00000503569.5:c.2601_2602insT ENSP00000423337.1:p.Arg868SerfsTer?
ENST00000507765.1:n.2786_2787insT
NM_001145853.1:c.2601_2602insT NP_001139325.1:p.Arg868SerfsTer?
NM_006005.3:c.2601_2602insT MANE Select NP_005996.2:p.Arg868SerfsTer?
XM_017008586.1:c.2610_2611insT XP_016864075.1:p.Arg871SerfsTer?