Canonical Allele Identifier: CA2545825920

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534424_154534425insCC , CM000685.2:g.154534424_154534425insCC	GRCh38
NC_000023.10:g.153762639_153762640insCC , CM000685.1:g.153762639_153762640insCC	GRCh37
NC_000023.9:g.153415833_153415834insCC	NCBI36
NG_009015.2:g.18148_18149insGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.557_558insGG	ENSP00000377194.2:p.His186GlnfsTer30
ENST00000439227.6:c.560_561insGG	ENSP00000395599.2:p.His187GlnfsTer30
ENST00000696420.1:c.557_558insGG	ENSP00000512615.1:p.His186GlnfsTer30
ENST00000696421.1:c.557_558insGG	ENSP00000512616.1:p.His186GlnfsTer30
ENST00000696422.1:c.420_421insGG
ENST00000696423.1:c.423_424insGG
ENST00000696424.1:c.437_438insGG	ENSP00000512619.1:p.His146GlnfsTer30
ENST00000696425.1:c.557_558insGG	ENSP00000512620.1:p.His186GlnfsTer30
ENST00000696426.1:c.557_558insGG	ENSP00000512621.1:p.His186GlnfsTer30
ENST00000696427.1:c.557_558insGG	ENSP00000512622.1:p.His186GlnfsTer30
ENST00000696428.1:c.*399_*400insGG	ENSP00000512623.1:n.*399_*400insGG
ENST00000696429.1:c.557_558insGG	ENSP00000512624.1:p.His186GlnfsTer30
ENST00000696430.1:c.557_558insGG	ENSP00000512625.1:p.His186GlnfsTer30
ENST00000393562.10:c.557_558insGG MANE Select	ENSP00000377192.3:p.His186GlnfsTer30
ENST00000369620.6:c.557_558insGG	ENSP00000358633.2:p.His186GlnfsTer30
ENST00000393562.6:c.647_648insGG	ENSP00000377192.2:p.His216GlnfsTer30
ENST00000393564.6:c.557_558insGG	ENSP00000377194.2:p.His186GlnfsTer30
ENST00000433845.1:c.557_558insGG	ENSP00000394690.1:p.His186GlnfsTer30
ENST00000439227.5:c.560_561insGG	ENSP00000395599.1:p.His187GlnfsTer30
ENST00000440967.5:c.560_561insGG	ENSP00000400648.1:p.His187GlnfsTer30
ENST00000621232.4:c.557_558insGG	ENSP00000483686.1:p.His186GlnfsTer30
NM_000402.4:c.647_648insGG	NP_000393.4:p.His216GlnfsTer30
NM_001042351.2:c.557_558insGG	NP_001035810.1:p.His186GlnfsTer30
XM_005274657.2:c.650_651insGG	XP_005274714.1:p.His217GlnfsTer30
XM_005274658.2:c.560_561insGG	XP_005274715.1:p.His187GlnfsTer30
XM_011531132.1:c.650_651insGG	XP_011529434.1:p.His217GlnfsTer30
NM_001360016.2:c.557_558insGG MANE Select	NP_001346945.1:p.His186GlnfsTer30
NM_001042351.3:c.557_558insGG	NP_001035810.1:p.His186GlnfsTer30