Canonical Allele Identifier: CA2573052348
Community Standard Title: NM_006005.3(WFS1):c.2432_2433delinsGA (p.Lys811Arg)
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302227_6302228delinsGA , CM000666.2:g.6302227_6302228delinsGA GRCh38
NC_000004.11:g.6303954_6303955delinsGA , CM000666.1:g.6303954_6303955delinsGA GRCh37
NC_000004.10:g.6354855_6354856delinsGA NCBI36
NG_011700.1:g.37378_37379delinsGA

Transcript Alleles

HGVS Amino-acid Change
NM_006005.3:c.2432_2433delinsGA MANE Select NP_005996.2:p.Lys811Arg
ENST00000226760.5:c.2432_2433delinsGA MANE Select ENSP00000226760.1:p.Lys811Arg
NM_001145853.1:c.2432_2433delinsGA NP_001139325.1:p.Lys811Arg
ENST00000503569.5:c.2432_2433delinsGA ENSP00000423337.1:p.Lys811Arg
ENST00000506362.2:c.2183_2184delinsGA ENSP00000424103.2:p.Lys728Arg
ENST00000507765.1:n.2617_2618delinsGA
ENST00000673991.1:c.2468_2469delinsGA ENSP00000501033.1:p.Lys823Arg
ENST00000682275.1:c.2468_2469delinsGA ENSP00000507852.1:p.Lys823Arg
ENST00000683395.1:c.2409_2410delinsGA
ENST00000684087.1:c.2432_2433delinsGA ENSP00000506978.1:p.Lys811Arg
XM_017008586.1:c.2441_2442delinsGA XP_016864075.1:p.Lys814Arg