Canonical Allele Identifier: CA2514007500
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534387_154534388del , CM000685.2:g.154534387_154534388del GRCh38
NC_000023.10:g.153762602_153762603del , CM000685.1:g.153762602_153762603del GRCh37
NC_000023.9:g.153415796_153415797del NCBI36
NG_009015.2:g.18185_18186del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.594_595del ENSP00000377194.2:p.Ile199ArgfsTer?
ENST00000439227.6:c.597_598del ENSP00000395599.2:p.Ile200ArgfsTer?
ENST00000696420.1:c.594_595del ENSP00000512615.1:p.Ile199ArgfsTer?
ENST00000696421.1:c.594_595del ENSP00000512616.1:p.Ile199ArgfsTer?
ENST00000696422.1:c.457_458del
ENST00000696423.1:c.460_461del
ENST00000696424.1:c.474_475del ENSP00000512619.1:p.Ile159ArgfsTer?
ENST00000696425.1:c.594_595del ENSP00000512620.1:p.Ile199ArgfsTer?
ENST00000696426.1:c.594_595del ENSP00000512621.1:p.Ile199ArgfsTer?
ENST00000696427.1:c.594_595del ENSP00000512622.1:p.Ile199ArgfsTer?
ENST00000696428.1:c.*436_*437del ENSP00000512623.1:n.*436_*437del
ENST00000696429.1:c.594_595del ENSP00000512624.1:p.Ile199ArgfsTer?
ENST00000696430.1:c.594_595del ENSP00000512625.1:p.Ile199ArgfsTer?
ENST00000393562.10:c.594_595del MANE Select ENSP00000377192.3:p.Ile199ArgfsTer?
ENST00000369620.6:c.594_595del ENSP00000358633.2:p.Ile199ArgfsTer?
ENST00000393562.6:c.684_685del ENSP00000377192.2:p.Ile229ArgfsTer?
ENST00000393564.6:c.594_595del ENSP00000377194.2:p.Ile199ArgfsTer?
ENST00000433845.1:c.594_595del ENSP00000394690.1:p.Ile199ArgfsTer?
ENST00000439227.5:c.597_598del ENSP00000395599.1:p.Ile200ArgfsTer?
ENST00000440967.5:c.597_598del ENSP00000400648.1:p.Ile200ArgfsTer?
ENST00000621232.4:c.594_595del ENSP00000483686.1:p.Ile199ArgfsTer?
NM_000402.4:c.684_685del NP_000393.4:p.Ile229ArgfsTer?
NM_001042351.2:c.594_595del NP_001035810.1:p.Ile199ArgfsTer?
XM_005274657.2:c.687_688del XP_005274714.1:p.Ile230ArgfsTer?
XM_005274658.2:c.597_598del XP_005274715.1:p.Ile200ArgfsTer?
XM_011531132.1:c.687_688del XP_011529434.1:p.Ile230ArgfsTer?
NM_001360016.2:c.594_595del MANE Select NP_001346945.1:p.Ile199ArgfsTer?
NM_001042351.3:c.594_595del NP_001035810.1:p.Ile199ArgfsTer?