Canonical Allele Identifier: CA2536129949
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534408_154534409insATCC , CM000685.2:g.154534408_154534409insATCC GRCh38
NC_000023.10:g.153762623_153762624insATCC , CM000685.1:g.153762623_153762624insATCC GRCh37
NC_000023.9:g.153415817_153415818insATCC NCBI36
NG_009015.2:g.18164_18165insGGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.573_574insGGAT ENSP00000377194.2:p.Arg192GlyfsTer3
ENST00000439227.6:c.576_577insGGAT ENSP00000395599.2:p.Arg193GlyfsTer3
ENST00000696420.1:c.573_574insGGAT ENSP00000512615.1:p.Arg192GlyfsTer3
ENST00000696421.1:c.573_574insGGAT ENSP00000512616.1:p.Arg192GlyfsTer3
ENST00000696422.1:c.436_437insGGAT
ENST00000696423.1:c.439_440insGGAT
ENST00000696424.1:c.453_454insGGAT ENSP00000512619.1:p.Arg152GlyfsTer3
ENST00000696425.1:c.573_574insGGAT ENSP00000512620.1:p.Arg192GlyfsTer3
ENST00000696426.1:c.573_574insGGAT ENSP00000512621.1:p.Arg192GlyfsTer3
ENST00000696427.1:c.573_574insGGAT ENSP00000512622.1:p.Arg192GlyfsTer3
ENST00000696428.1:c.*415_*416insGGAT ENSP00000512623.1:n.*415_*416insGGAT
ENST00000696429.1:c.573_574insGGAT ENSP00000512624.1:p.Arg192GlyfsTer3
ENST00000696430.1:c.573_574insGGAT ENSP00000512625.1:p.Arg192GlyfsTer3
ENST00000393562.10:c.573_574insGGAT MANE Select ENSP00000377192.3:p.Arg192GlyfsTer3
ENST00000369620.6:c.573_574insGGAT ENSP00000358633.2:p.Arg192GlyfsTer3
ENST00000393562.6:c.663_664insGGAT ENSP00000377192.2:p.Arg222GlyfsTer3
ENST00000393564.6:c.573_574insGGAT ENSP00000377194.2:p.Arg192GlyfsTer3
ENST00000433845.1:c.573_574insGGAT ENSP00000394690.1:p.Arg192GlyfsTer3
ENST00000439227.5:c.576_577insGGAT ENSP00000395599.1:p.Arg193GlyfsTer3
ENST00000440967.5:c.576_577insGGAT ENSP00000400648.1:p.Arg193GlyfsTer3
ENST00000621232.4:c.573_574insGGAT ENSP00000483686.1:p.Arg192GlyfsTer3
NM_000402.4:c.663_664insGGAT NP_000393.4:p.Arg222GlyfsTer3
NM_001042351.2:c.573_574insGGAT NP_001035810.1:p.Arg192GlyfsTer3
XM_005274657.2:c.666_667insGGAT XP_005274714.1:p.Arg223GlyfsTer3
XM_005274658.2:c.576_577insGGAT XP_005274715.1:p.Arg193GlyfsTer3
XM_011531132.1:c.666_667insGGAT XP_011529434.1:p.Arg223GlyfsTer3
NM_001360016.2:c.573_574insGGAT MANE Select NP_001346945.1:p.Arg192GlyfsTer3
NM_001042351.3:c.573_574insGGAT NP_001035810.1:p.Arg192GlyfsTer3