Canonical Allele Identifier: CA2559806357

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534408_154534409insCAC , CM000685.2:g.154534408_154534409insCAC	GRCh38
NC_000023.10:g.153762623_153762624insCAC , CM000685.1:g.153762623_153762624insCAC	GRCh37
NC_000023.9:g.153415817_153415818insCAC	NCBI36
NG_009015.2:g.18164_18165insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.573_574insGTG	ENSP00000377194.2:p.Phe191_Arg192insVal
ENST00000439227.6:c.576_577insGTG	ENSP00000395599.2:p.Phe192_Arg193insVal
ENST00000696420.1:c.573_574insGTG	ENSP00000512615.1:p.Phe191_Arg192insVal
ENST00000696421.1:c.573_574insGTG	ENSP00000512616.1:p.Phe191_Arg192insVal
ENST00000696422.1:c.436_437insGTG
ENST00000696423.1:c.439_440insGTG
ENST00000696424.1:c.453_454insGTG	ENSP00000512619.1:p.Phe151_Arg152insVal
ENST00000696425.1:c.573_574insGTG	ENSP00000512620.1:p.Phe191_Arg192insVal
ENST00000696426.1:c.573_574insGTG	ENSP00000512621.1:p.Phe191_Arg192insVal
ENST00000696427.1:c.573_574insGTG	ENSP00000512622.1:p.Phe191_Arg192insVal
ENST00000696428.1:c.*415_*416insGTG	ENSP00000512623.1:n.*415_*416insGTG
ENST00000696429.1:c.573_574insGTG	ENSP00000512624.1:p.Phe191_Arg192insVal
ENST00000696430.1:c.573_574insGTG	ENSP00000512625.1:p.Phe191_Arg192insVal
ENST00000393562.10:c.573_574insGTG MANE Select	ENSP00000377192.3:p.Phe191_Arg192insVal
ENST00000369620.6:c.573_574insGTG	ENSP00000358633.2:p.Phe191_Arg192insVal
ENST00000393562.6:c.663_664insGTG	ENSP00000377192.2:p.Phe221_Arg222insVal
ENST00000393564.6:c.573_574insGTG	ENSP00000377194.2:p.Phe191_Arg192insVal
ENST00000433845.1:c.573_574insGTG	ENSP00000394690.1:p.Phe191_Arg192insVal
ENST00000439227.5:c.576_577insGTG	ENSP00000395599.1:p.Phe192_Arg193insVal
ENST00000440967.5:c.576_577insGTG	ENSP00000400648.1:p.Phe192_Arg193insVal
ENST00000621232.4:c.573_574insGTG	ENSP00000483686.1:p.Phe191_Arg192insVal
NM_000402.4:c.663_664insGTG	NP_000393.4:p.Phe221_Arg222insVal
NM_001042351.2:c.573_574insGTG	NP_001035810.1:p.Phe191_Arg192insVal
XM_005274657.2:c.666_667insGTG	XP_005274714.1:p.Phe222_Arg223insVal
XM_005274658.2:c.576_577insGTG	XP_005274715.1:p.Phe192_Arg193insVal
XM_011531132.1:c.666_667insGTG	XP_011529434.1:p.Phe222_Arg223insVal
NM_001360016.2:c.573_574insGTG MANE Select	NP_001346945.1:p.Phe191_Arg192insVal
NM_001042351.3:c.573_574insGTG	NP_001035810.1:p.Phe191_Arg192insVal