Canonical Allele Identifier: CA2824282616
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534429_154534430insCCCACGA , CM000685.2:g.154534429_154534430insCCCACGA GRCh38
NC_000023.10:g.153762644_153762645insCCCACGA , CM000685.1:g.153762644_153762645insCCCACGA GRCh37
NC_000023.9:g.153415838_153415839insCCCACGA NCBI36
NG_009015.2:g.18143_18144insTCGTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.552_553insTCGTGGG ENSP00000377194.2:p.Asn185SerfsTer11
ENST00000439227.6:c.555_556insTCGTGGG ENSP00000395599.2:p.Asn186SerfsTer11
ENST00000696420.1:c.552_553insTCGTGGG ENSP00000512615.1:p.Asn185SerfsTer11
ENST00000696421.1:c.552_553insTCGTGGG ENSP00000512616.1:p.Asn185SerfsTer11
ENST00000696422.1:c.415_416insTCGTGGG
ENST00000696423.1:c.418_419insTCGTGGG
ENST00000696424.1:c.432_433insTCGTGGG ENSP00000512619.1:p.Asn145SerfsTer11
ENST00000696425.1:c.552_553insTCGTGGG ENSP00000512620.1:p.Asn185SerfsTer11
ENST00000696426.1:c.552_553insTCGTGGG ENSP00000512621.1:p.Asn185SerfsTer11
ENST00000696427.1:c.552_553insTCGTGGG ENSP00000512622.1:p.Asn185SerfsTer11
ENST00000696428.1:c.*394_*395insTCGTGGG ENSP00000512623.1:n.*394_*395insTCGTGGG
ENST00000696429.1:c.552_553insTCGTGGG ENSP00000512624.1:p.Asn185SerfsTer11
ENST00000696430.1:c.552_553insTCGTGGG ENSP00000512625.1:p.Asn185SerfsTer11
ENST00000393562.10:c.552_553insTCGTGGG MANE Select ENSP00000377192.3:p.Asn185SerfsTer11
ENST00000369620.6:c.552_553insTCGTGGG ENSP00000358633.2:p.Asn185SerfsTer11
ENST00000393562.6:c.642_643insTCGTGGG ENSP00000377192.2:p.Asn215SerfsTer11
ENST00000393564.6:c.552_553insTCGTGGG ENSP00000377194.2:p.Asn185SerfsTer11
ENST00000433845.1:c.552_553insTCGTGGG ENSP00000394690.1:p.Asn185SerfsTer11
ENST00000439227.5:c.555_556insTCGTGGG ENSP00000395599.1:p.Asn186SerfsTer11
ENST00000440967.5:c.555_556insTCGTGGG ENSP00000400648.1:p.Asn186SerfsTer11
ENST00000621232.4:c.552_553insTCGTGGG ENSP00000483686.1:p.Asn185SerfsTer11
NM_000402.4:c.642_643insTCGTGGG NP_000393.4:p.Asn215SerfsTer11
NM_001042351.2:c.552_553insTCGTGGG NP_001035810.1:p.Asn185SerfsTer11
XM_005274657.2:c.645_646insTCGTGGG XP_005274714.1:p.Asn216SerfsTer11
XM_005274658.2:c.555_556insTCGTGGG XP_005274715.1:p.Asn186SerfsTer11
XM_011531132.1:c.645_646insTCGTGGG XP_011529434.1:p.Asn216SerfsTer11
NM_001360016.2:c.552_553insTCGTGGG MANE Select NP_001346945.1:p.Asn185SerfsTer11
NM_001042351.3:c.552_553insTCGTGGG NP_001035810.1:p.Asn185SerfsTer11