Canonical Allele Identifier: CA2544963175

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534449_154534450insCGTA , CM000685.2:g.154534449_154534450insCGTA	GRCh38
NC_000023.10:g.153762664_153762665insCGTA , CM000685.1:g.153762664_153762665insCGTA	GRCh37
NC_000023.9:g.153415858_153415859insCGTA	NCBI36
NG_009015.2:g.18123_18124insTACG

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.532_533insTACG	ENSP00000377194.2:p.Gln178LeufsTer5
ENST00000439227.6:c.535_536insTACG	ENSP00000395599.2:p.Gln179LeufsTer5
ENST00000696420.1:c.532_533insTACG	ENSP00000512615.1:p.Gln178LeufsTer5
ENST00000696421.1:c.532_533insTACG	ENSP00000512616.1:p.Gln178LeufsTer5
ENST00000696422.1:c.395_396insTACG
ENST00000696423.1:c.398_399insTACG
ENST00000696424.1:c.412_413insTACG	ENSP00000512619.1:p.Gln138LeufsTer5
ENST00000696425.1:c.532_533insTACG	ENSP00000512620.1:p.Gln178LeufsTer5
ENST00000696426.1:c.532_533insTACG	ENSP00000512621.1:p.Gln178LeufsTer5
ENST00000696427.1:c.532_533insTACG	ENSP00000512622.1:p.Gln178LeufsTer5
ENST00000696428.1:c.*374_*375insTACG	ENSP00000512623.1:n.*374_*375insTACG
ENST00000696429.1:c.532_533insTACG	ENSP00000512624.1:p.Gln178LeufsTer5
ENST00000696430.1:c.532_533insTACG	ENSP00000512625.1:p.Gln178LeufsTer5
ENST00000393562.10:c.532_533insTACG MANE Select	ENSP00000377192.3:p.Gln178LeufsTer5
ENST00000369620.6:c.532_533insTACG	ENSP00000358633.2:p.Gln178LeufsTer5
ENST00000393562.6:c.622_623insTACG	ENSP00000377192.2:p.Gln208LeufsTer5
ENST00000393564.6:c.532_533insTACG	ENSP00000377194.2:p.Gln178LeufsTer5
ENST00000433845.1:c.532_533insTACG	ENSP00000394690.1:p.Gln178LeufsTer5
ENST00000439227.5:c.535_536insTACG	ENSP00000395599.1:p.Gln179LeufsTer5
ENST00000440967.5:c.535_536insTACG	ENSP00000400648.1:p.Gln179LeufsTer5
ENST00000621232.4:c.532_533insTACG	ENSP00000483686.1:p.Gln178LeufsTer5
NM_000402.4:c.622_623insTACG	NP_000393.4:p.Gln208LeufsTer5
NM_001042351.2:c.532_533insTACG	NP_001035810.1:p.Gln178LeufsTer5
XM_005274657.2:c.625_626insTACG	XP_005274714.1:p.Gln209LeufsTer5
XM_005274658.2:c.535_536insTACG	XP_005274715.1:p.Gln179LeufsTer5
XM_011531132.1:c.625_626insTACG	XP_011529434.1:p.Gln209LeufsTer5
NM_001360016.2:c.532_533insTACG MANE Select	NP_001346945.1:p.Gln178LeufsTer5
NM_001042351.3:c.532_533insTACG	NP_001035810.1:p.Gln178LeufsTer5