Canonical Allele Identifier: CA2567188734
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534400_154534401insACGCACGATACG , CM000685.2:g.154534400_154534401insACGCACGATACG GRCh38
NC_000023.10:g.153762615_153762616insACGCACGATACG , CM000685.1:g.153762615_153762616insACGCACGATACG GRCh37
NC_000023.9:g.153415809_153415810insACGCACGATACG NCBI36
NG_009015.2:g.18173_18174insGTATCGTGCGTC

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.582_583insGTATCGTGCGTC ENSP00000377194.2:p.Asp194_Gln195insValSe...
ENST00000439227.6:c.585_586insGTATCGTGCGTC ENSP00000395599.2:p.Asp195_Gln196insValSe...
ENST00000696420.1:c.582_583insGTATCGTGCGTC ENSP00000512615.1:p.Asp194_Gln195insValSe...
ENST00000696421.1:c.582_583insGTATCGTGCGTC ENSP00000512616.1:p.Asp194_Gln195insValSe...
ENST00000696422.1:c.445_446insGTATCGTGCGTC
ENST00000696423.1:c.448_449insGTATCGTGCGTC
ENST00000696424.1:c.462_463insGTATCGTGCGTC ENSP00000512619.1:p.Asp154_Gln155insValSe...
ENST00000696425.1:c.582_583insGTATCGTGCGTC ENSP00000512620.1:p.Asp194_Gln195insValSe...
ENST00000696426.1:c.582_583insGTATCGTGCGTC ENSP00000512621.1:p.Asp194_Gln195insValSe...
ENST00000696427.1:c.582_583insGTATCGTGCGTC ENSP00000512622.1:p.Asp194_Gln195insValSe...
ENST00000696428.1:c.*424_*425insGTATCGTGCGTC ENSP00000512623.1:n.*424_*425insGTATCGTGC...
ENST00000696429.1:c.582_583insGTATCGTGCGTC ENSP00000512624.1:p.Asp194_Gln195insValSe...
ENST00000696430.1:c.582_583insGTATCGTGCGTC ENSP00000512625.1:p.Asp194_Gln195insValSe...
ENST00000393562.10:c.582_583insGTATCGTGCGTC MANE Select ENSP00000377192.3:p.Asp194_Gln195insValSe...
ENST00000369620.6:c.582_583insGTATCGTGCGTC ENSP00000358633.2:p.Asp194_Gln195insValSe...
ENST00000393562.6:c.672_673insGTATCGTGCGTC ENSP00000377192.2:p.Asp224_Gln225insValSe...
ENST00000393564.6:c.582_583insGTATCGTGCGTC ENSP00000377194.2:p.Asp194_Gln195insValSe...
ENST00000433845.1:c.582_583insGTATCGTGCGTC ENSP00000394690.1:p.Asp194_Gln195insValSe...
ENST00000439227.5:c.585_586insGTATCGTGCGTC ENSP00000395599.1:p.Asp195_Gln196insValSe...
ENST00000440967.5:c.585_586insGTATCGTGCGTC ENSP00000400648.1:p.Asp195_Gln196insValSe...
ENST00000621232.4:c.582_583insGTATCGTGCGTC ENSP00000483686.1:p.Asp194_Gln195insValSe...
NM_000402.4:c.672_673insGTATCGTGCGTC NP_000393.4:p.Asp224_Gln225insValSerCysVa...
NM_001042351.2:c.582_583insGTATCGTGCGTC NP_001035810.1:p.Asp194_Gln195insValSerCy...
XM_005274657.2:c.675_676insGTATCGTGCGTC XP_005274714.1:p.Asp225_Gln226insValSerCy...
XM_005274658.2:c.585_586insGTATCGTGCGTC XP_005274715.1:p.Asp195_Gln196insValSerCy...
XM_011531132.1:c.675_676insGTATCGTGCGTC XP_011529434.1:p.Asp225_Gln226insValSerCy...
NM_001360016.2:c.582_583insGTATCGTGCGTC MANE Select NP_001346945.1:p.Asp194_Gln195insValSerCy...
NM_001042351.3:c.582_583insGTATCGTGCGTC NP_001035810.1:p.Asp194_Gln195insValSerCy...