Canonical Allele Identifier: CA3275537100

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154535994_154535996delinsGTG , CM000685.2:g.154535994_154535996delinsGTG	GRCh38
NC_000023.10:g.153764209_153764211delinsGTG , CM000685.1:g.153764209_153764211delinsGTG	GRCh37
NC_000023.9:g.153417403_153417405delinsGTG	NCBI36
NG_009015.2:g.16577_16579delinsCAC

Transcript Alleles

HGVS	Amino-acid Change
NM_001360016.2:c.208_210delinsCAC MANE Select	NP_001346945.1:p.Tyr70His
ENST00000393562.10:c.208_210delinsCAC MANE Select	ENSP00000377192.3:p.Tyr70His
NM_000402.4:c.298_300delinsCAC	NP_000393.4:p.Tyr100His
NM_001042351.2:c.208_210delinsCAC	NP_001035810.1:p.Tyr70His
NM_001042351.3:c.208_210delinsCAC	NP_001035810.1:p.Tyr70His
ENST00000369620.6:c.208_210delinsCAC	ENSP00000358633.2:p.Tyr70His
ENST00000393562.6:c.298_300delinsCAC	ENSP00000377192.2:p.Tyr100His
ENST00000393564.6:c.208_210delinsCAC	ENSP00000377194.2:p.Tyr70His
ENST00000393564.7:c.208_210delinsCAC	ENSP00000377194.2:p.Tyr70His
ENST00000433845.1:c.208_210delinsCAC	ENSP00000394690.1:p.Tyr70His
ENST00000439227.5:c.208_210delinsCAC	ENSP00000395599.1:p.Tyr70His
ENST00000439227.6:c.208_210delinsCAC	ENSP00000395599.2:p.Tyr70His
ENST00000440967.5:c.208_210delinsCAC	ENSP00000400648.1:p.Tyr70His
ENST00000488434.1:n.162_164delinsCAC
ENST00000497281.5:n.162_164delinsCAC
ENST00000621232.4:c.208_210delinsCAC	ENSP00000483686.1:p.Tyr70His
ENST00000696420.1:c.208_210delinsCAC	ENSP00000512615.1:p.Tyr70His
ENST00000696421.1:c.208_210delinsCAC	ENSP00000512616.1:p.Tyr70His
ENST00000696422.1:c.88_90delinsCAC
ENST00000696423.1:c.88_90delinsCAC
ENST00000696424.1:c.88_90delinsCAC	ENSP00000512619.1:p.Tyr30His
ENST00000696425.1:c.208_210delinsCAC	ENSP00000512620.1:p.Tyr70His
ENST00000696426.1:c.208_210delinsCAC	ENSP00000512621.1:p.Tyr70His
ENST00000696427.1:c.208_210delinsCAC	ENSP00000512622.1:p.Tyr70His
ENST00000696428.1:c.*50_*52delinsCAC	ENSP00000512623.1:n.*50_*52delinsCAC
ENST00000696429.1:c.208_210delinsCAC	ENSP00000512624.1:p.Tyr70His
ENST00000696430.1:c.208_210delinsCAC	ENSP00000512625.1:p.Tyr70His
ENST00000696431.1:c.208_210delinsCAC	ENSP00000512626.1:p.Tyr70His
XM_005274657.2:c.298_300delinsCAC	XP_005274714.1:p.Tyr100His
XM_005274658.2:c.208_210delinsCAC	XP_005274715.1:p.Tyr70His
XM_011531132.1:c.298_300delinsCAC	XP_011529434.1:p.Tyr100His