Canonical Allele Identifier: CA3275536061

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154535329_154535330delinsTT , CM000685.2:g.154535329_154535330delinsTT	GRCh38
NC_000023.10:g.153763544_153763545delinsTT , CM000685.1:g.153763544_153763545delinsTT	GRCh37
NC_000023.9:g.153416738_153416739delinsTT	NCBI36
NG_009015.2:g.17243_17244delinsAA

Transcript Alleles

HGVS	Amino-acid Change
NM_001360016.2:c.323_324delinsAA MANE Select	NP_001346945.1:p.Val108Glu
ENST00000393562.10:c.323_324delinsAA MANE Select	ENSP00000377192.3:p.Val108Glu
NM_000402.4:c.413_414delinsAA	NP_000393.4:p.Val138Glu
NM_001042351.2:c.323_324delinsAA	NP_001035810.1:p.Val108Glu
NM_001042351.3:c.323_324delinsAA	NP_001035810.1:p.Val108Glu
ENST00000369620.6:c.323_324delinsAA	ENSP00000358633.2:p.Val108Glu
ENST00000393562.6:c.413_414delinsAA	ENSP00000377192.2:p.Val138Glu
ENST00000393564.6:c.323_324delinsAA	ENSP00000377194.2:p.Val108Glu
ENST00000393564.7:c.323_324delinsAA	ENSP00000377194.2:p.Val108Glu
ENST00000433845.1:c.323_324delinsAA	ENSP00000394690.1:p.Val108Glu
ENST00000439227.5:c.323_324delinsAA	ENSP00000395599.1:p.Val108Glu
ENST00000439227.6:c.323_324delinsAA	ENSP00000395599.2:p.Val108Glu
ENST00000440967.5:c.323_324delinsAA	ENSP00000400648.1:p.Val108Glu
ENST00000497281.5:n.277_278delinsAA
ENST00000621232.4:c.323_324delinsAA	ENSP00000483686.1:p.Val108Glu
ENST00000696420.1:c.323_324delinsAA	ENSP00000512615.1:p.Val108Glu
ENST00000696421.1:c.323_324delinsAA	ENSP00000512616.1:p.Val108Glu
ENST00000696422.1:c.186_187delinsAA
ENST00000696423.1:c.186_187delinsAA
ENST00000696424.1:c.203_204delinsAA	ENSP00000512619.1:p.Val68Glu
ENST00000696425.1:c.323_324delinsAA	ENSP00000512620.1:p.Val108Glu
ENST00000696426.1:c.323_324delinsAA	ENSP00000512621.1:p.Val108Glu
ENST00000696427.1:c.323_324delinsAA	ENSP00000512622.1:p.Val108Glu
ENST00000696428.1:c.*165_*166delinsAA	ENSP00000512623.1:n.*165_*166delinsAA
ENST00000696429.1:c.323_324delinsAA	ENSP00000512624.1:p.Val108Glu
ENST00000696430.1:c.323_324delinsAA	ENSP00000512625.1:p.Val108Glu
ENST00000696431.1:c.323_324delinsAA	ENSP00000512626.1:p.Val108Glu
XM_005274657.2:c.413_414delinsAA	XP_005274714.1:p.Val138Glu
XM_005274658.2:c.323_324delinsAA	XP_005274715.1:p.Val108Glu
XM_011531132.1:c.413_414delinsAA	XP_011529434.1:p.Val138Glu