Canonical Allele Identifier: CA1435772440
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302180_6302183delinsGGAC , CM000666.2:g.6302180_6302183delinsGGAC GRCh38
NC_000004.11:g.6303907_6303910delinsGGAC , CM000666.1:g.6303907_6303910delinsGGAC GRCh37
NC_000004.10:g.6354808_6354811delinsGGAC NCBI36
NG_011700.1:g.37331_37334delinsGGAC

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.2421_2424delinsGGAC ENSP00000507852.1:p.Glu807=
ENST00000683395.1:c.2362_2365delinsGGAC
ENST00000684087.1:c.2385_2388delinsGGAC ENSP00000506978.1:p.Glu795=
ENST00000506362.2:c.2136_2139delinsGGAC ENSP00000424103.2:p.Glu712=
ENST00000673991.1:c.2421_2424delinsGGAC ENSP00000501033.1:p.Glu807=
ENST00000226760.5:c.2385_2388delinsGGAC MANE Select ENSP00000226760.1:p.Glu795=
ENST00000503569.5:c.2385_2388delinsGGAC ENSP00000423337.1:p.Glu795=
ENST00000507765.1:n.2570_2573delinsGGAC
NM_001145853.1:c.2385_2388delinsGGAC NP_001139325.1:p.Glu795=
NM_006005.3:c.2385_2388delinsGGAC MANE Select NP_005996.2:p.Glu795=
XM_017008586.1:c.2394_2397delinsGGAC XP_016864075.1:p.Glu798=