Canonical Allele Identifier: CA2563468508
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534436_154534437insTCG , CM000685.2:g.154534436_154534437insTCG GRCh38
NC_000023.10:g.153762651_153762652insTCG , CM000685.1:g.153762651_153762652insTCG GRCh37
NC_000023.9:g.153415845_153415846insTCG NCBI36
NG_009015.2:g.18136_18137insCGA

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.545_546insCGA ENSP00000377194.2:p.Arg182_Leu183insGlu
ENST00000439227.6:c.548_549insCGA ENSP00000395599.2:p.Arg183_Leu184insGlu
ENST00000696420.1:c.545_546insCGA ENSP00000512615.1:p.Arg182_Leu183insGlu
ENST00000696421.1:c.545_546insCGA ENSP00000512616.1:p.Arg182_Leu183insGlu
ENST00000696422.1:c.408_409insCGA
ENST00000696423.1:c.411_412insCGA
ENST00000696424.1:c.425_426insCGA ENSP00000512619.1:p.Arg142_Leu143insGlu
ENST00000696425.1:c.545_546insCGA ENSP00000512620.1:p.Arg182_Leu183insGlu
ENST00000696426.1:c.545_546insCGA ENSP00000512621.1:p.Arg182_Leu183insGlu
ENST00000696427.1:c.545_546insCGA ENSP00000512622.1:p.Arg182_Leu183insGlu
ENST00000696428.1:c.*387_*388insCGA ENSP00000512623.1:n.*387_*388insCGA
ENST00000696429.1:c.545_546insCGA ENSP00000512624.1:p.Arg182_Leu183insGlu
ENST00000696430.1:c.545_546insCGA ENSP00000512625.1:p.Arg182_Leu183insGlu
ENST00000393562.10:c.545_546insCGA MANE Select ENSP00000377192.3:p.Arg182_Leu183insGlu
ENST00000369620.6:c.545_546insCGA ENSP00000358633.2:p.Arg182_Leu183insGlu
ENST00000393562.6:c.635_636insCGA ENSP00000377192.2:p.Arg212_Leu213insGlu
ENST00000393564.6:c.545_546insCGA ENSP00000377194.2:p.Arg182_Leu183insGlu
ENST00000433845.1:c.545_546insCGA ENSP00000394690.1:p.Arg182_Leu183insGlu
ENST00000439227.5:c.548_549insCGA ENSP00000395599.1:p.Arg183_Leu184insGlu
ENST00000440967.5:c.548_549insCGA ENSP00000400648.1:p.Arg183_Leu184insGlu
ENST00000621232.4:c.545_546insCGA ENSP00000483686.1:p.Arg182_Leu183insGlu
NM_000402.4:c.635_636insCGA NP_000393.4:p.Arg212_Leu213insGlu
NM_001042351.2:c.545_546insCGA NP_001035810.1:p.Arg182_Leu183insGlu
XM_005274657.2:c.638_639insCGA XP_005274714.1:p.Arg213_Leu214insGlu
XM_005274658.2:c.548_549insCGA XP_005274715.1:p.Arg183_Leu184insGlu
XM_011531132.1:c.638_639insCGA XP_011529434.1:p.Arg213_Leu214insGlu
NM_001360016.2:c.545_546insCGA MANE Select NP_001346945.1:p.Arg182_Leu183insGlu
NM_001042351.3:c.545_546insCGA NP_001035810.1:p.Arg182_Leu183insGlu