Canonical Allele Identifier: CA2546488303

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534405_154534406insGT , CM000685.2:g.154534405_154534406insGT	GRCh38
NC_000023.10:g.153762620_153762621insGT , CM000685.1:g.153762620_153762621insGT	GRCh37
NC_000023.9:g.153415814_153415815insGT	NCBI36
NG_009015.2:g.18167_18168insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.576_577insAC	ENSP00000377194.2:p.Glu193ThrfsTer23
ENST00000439227.6:c.579_580insAC	ENSP00000395599.2:p.Glu194ThrfsTer23
ENST00000696420.1:c.576_577insAC	ENSP00000512615.1:p.Glu193ThrfsTer23
ENST00000696421.1:c.576_577insAC	ENSP00000512616.1:p.Glu193ThrfsTer23
ENST00000696422.1:c.439_440insAC
ENST00000696423.1:c.442_443insAC
ENST00000696424.1:c.456_457insAC	ENSP00000512619.1:p.Glu153ThrfsTer23
ENST00000696425.1:c.576_577insAC	ENSP00000512620.1:p.Glu193ThrfsTer23
ENST00000696426.1:c.576_577insAC	ENSP00000512621.1:p.Glu193ThrfsTer23
ENST00000696427.1:c.576_577insAC	ENSP00000512622.1:p.Glu193ThrfsTer23
ENST00000696428.1:c.*418_*419insAC	ENSP00000512623.1:n.*418_*419insAC
ENST00000696429.1:c.576_577insAC	ENSP00000512624.1:p.Glu193ThrfsTer23
ENST00000696430.1:c.576_577insAC	ENSP00000512625.1:p.Glu193ThrfsTer23
ENST00000393562.10:c.576_577insAC MANE Select	ENSP00000377192.3:p.Glu193ThrfsTer23
ENST00000369620.6:c.576_577insAC	ENSP00000358633.2:p.Glu193ThrfsTer23
ENST00000393562.6:c.666_667insAC	ENSP00000377192.2:p.Glu223ThrfsTer23
ENST00000393564.6:c.576_577insAC	ENSP00000377194.2:p.Glu193ThrfsTer23
ENST00000433845.1:c.576_577insAC	ENSP00000394690.1:p.Glu193ThrfsTer23
ENST00000439227.5:c.579_580insAC	ENSP00000395599.1:p.Glu194ThrfsTer23
ENST00000440967.5:c.579_580insAC	ENSP00000400648.1:p.Glu194ThrfsTer23
ENST00000621232.4:c.576_577insAC	ENSP00000483686.1:p.Glu193ThrfsTer23
NM_000402.4:c.666_667insAC	NP_000393.4:p.Glu223ThrfsTer23
NM_001042351.2:c.576_577insAC	NP_001035810.1:p.Glu193ThrfsTer23
XM_005274657.2:c.669_670insAC	XP_005274714.1:p.Glu224ThrfsTer23
XM_005274658.2:c.579_580insAC	XP_005274715.1:p.Glu194ThrfsTer23
XM_011531132.1:c.669_670insAC	XP_011529434.1:p.Glu224ThrfsTer23
NM_001360016.2:c.576_577insAC MANE Select	NP_001346945.1:p.Glu193ThrfsTer23
NM_001042351.3:c.576_577insAC	NP_001035810.1:p.Glu193ThrfsTer23