Canonical Allele Identifier: CA2548367023

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534400_154534401insACGCACGATCCG , CM000685.2:g.154534400_154534401insACGCACGATCCG	GRCh38
NC_000023.10:g.153762615_153762616insACGCACGATCCG , CM000685.1:g.153762615_153762616insACGCACGATCCG	GRCh37
NC_000023.9:g.153415809_153415810insACGCACGATCCG	NCBI36
NG_009015.2:g.18173_18174insGGATCGTGCGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.582_583insGGATCGTGCGTC	ENSP00000377194.2:p.Asp194_Gln195insGlySerCysVal
ENST00000439227.6:c.585_586insGGATCGTGCGTC	ENSP00000395599.2:p.Asp195_Gln196insGlySerCysVal
ENST00000696420.1:c.582_583insGGATCGTGCGTC	ENSP00000512615.1:p.Asp194_Gln195insGlySerCysVal
ENST00000696421.1:c.582_583insGGATCGTGCGTC	ENSP00000512616.1:p.Asp194_Gln195insGlySerCysVal
ENST00000696422.1:c.445_446insGGATCGTGCGTC
ENST00000696423.1:c.448_449insGGATCGTGCGTC
ENST00000696424.1:c.462_463insGGATCGTGCGTC	ENSP00000512619.1:p.Asp154_Gln155insGlySerCysVal
ENST00000696425.1:c.582_583insGGATCGTGCGTC	ENSP00000512620.1:p.Asp194_Gln195insGlySerCysVal
ENST00000696426.1:c.582_583insGGATCGTGCGTC	ENSP00000512621.1:p.Asp194_Gln195insGlySerCysVal
ENST00000696427.1:c.582_583insGGATCGTGCGTC	ENSP00000512622.1:p.Asp194_Gln195insGlySerCysVal
ENST00000696428.1:c.*424_*425insGGATCGTGCGTC	ENSP00000512623.1:n.*424_*425insGGATCGTGCGTC
ENST00000696429.1:c.582_583insGGATCGTGCGTC	ENSP00000512624.1:p.Asp194_Gln195insGlySerCysVal
ENST00000696430.1:c.582_583insGGATCGTGCGTC	ENSP00000512625.1:p.Asp194_Gln195insGlySerCysVal
ENST00000393562.10:c.582_583insGGATCGTGCGTC MANE Select	ENSP00000377192.3:p.Asp194_Gln195insGlySerCysVal
ENST00000369620.6:c.582_583insGGATCGTGCGTC	ENSP00000358633.2:p.Asp194_Gln195insGlySerCysVal
ENST00000393562.6:c.672_673insGGATCGTGCGTC	ENSP00000377192.2:p.Asp224_Gln225insGlySerCysVal
ENST00000393564.6:c.582_583insGGATCGTGCGTC	ENSP00000377194.2:p.Asp194_Gln195insGlySerCysVal
ENST00000433845.1:c.582_583insGGATCGTGCGTC	ENSP00000394690.1:p.Asp194_Gln195insGlySerCysVal
ENST00000439227.5:c.585_586insGGATCGTGCGTC	ENSP00000395599.1:p.Asp195_Gln196insGlySerCysVal
ENST00000440967.5:c.585_586insGGATCGTGCGTC	ENSP00000400648.1:p.Asp195_Gln196insGlySerCysVal
ENST00000621232.4:c.582_583insGGATCGTGCGTC	ENSP00000483686.1:p.Asp194_Gln195insGlySerCysVal
NM_000402.4:c.672_673insGGATCGTGCGTC	NP_000393.4:p.Asp224_Gln225insGlySerCysVal
NM_001042351.2:c.582_583insGGATCGTGCGTC	NP_001035810.1:p.Asp194_Gln195insGlySerCysVal
XM_005274657.2:c.675_676insGGATCGTGCGTC	XP_005274714.1:p.Asp225_Gln226insGlySerCysVal
XM_005274658.2:c.585_586insGGATCGTGCGTC	XP_005274715.1:p.Asp195_Gln196insGlySerCysVal
XM_011531132.1:c.675_676insGGATCGTGCGTC	XP_011529434.1:p.Asp225_Gln226insGlySerCysVal
NM_001360016.2:c.582_583insGGATCGTGCGTC MANE Select	NP_001346945.1:p.Asp194_Gln195insGlySerCysVal
NM_001042351.3:c.582_583insGGATCGTGCGTC	NP_001035810.1:p.Asp194_Gln195insGlySerCysVal