Canonical Allele Identifier: CA2545075417

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534436_154534437insA , CM000685.2:g.154534436_154534437insA	GRCh38
NC_000023.10:g.153762651_153762652insA , CM000685.1:g.153762651_153762652insA	GRCh37
NC_000023.9:g.153415845_153415846insA	NCBI36
NG_009015.2:g.18136_18137insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.545_546insT	ENSP00000377194.2:p.Leu183AlafsTer11
ENST00000439227.6:c.548_549insT	ENSP00000395599.2:p.Leu184AlafsTer11
ENST00000696420.1:c.545_546insT	ENSP00000512615.1:p.Leu183AlafsTer11
ENST00000696421.1:c.545_546insT	ENSP00000512616.1:p.Leu183AlafsTer11
ENST00000696422.1:c.408_409insT
ENST00000696423.1:c.411_412insT
ENST00000696424.1:c.425_426insT	ENSP00000512619.1:p.Leu143AlafsTer11
ENST00000696425.1:c.545_546insT	ENSP00000512620.1:p.Leu183AlafsTer11
ENST00000696426.1:c.545_546insT	ENSP00000512621.1:p.Leu183AlafsTer11
ENST00000696427.1:c.545_546insT	ENSP00000512622.1:p.Leu183AlafsTer11
ENST00000696428.1:c.*387_*388insT	ENSP00000512623.1:n.*387_*388insT
ENST00000696429.1:c.545_546insT	ENSP00000512624.1:p.Leu183AlafsTer11
ENST00000696430.1:c.545_546insT	ENSP00000512625.1:p.Leu183AlafsTer11
ENST00000393562.10:c.545_546insT MANE Select	ENSP00000377192.3:p.Leu183AlafsTer11
ENST00000369620.6:c.545_546insT	ENSP00000358633.2:p.Leu183AlafsTer11
ENST00000393562.6:c.635_636insT	ENSP00000377192.2:p.Leu213AlafsTer11
ENST00000393564.6:c.545_546insT	ENSP00000377194.2:p.Leu183AlafsTer11
ENST00000433845.1:c.545_546insT	ENSP00000394690.1:p.Leu183AlafsTer11
ENST00000439227.5:c.548_549insT	ENSP00000395599.1:p.Leu184AlafsTer11
ENST00000440967.5:c.548_549insT	ENSP00000400648.1:p.Leu184AlafsTer11
ENST00000621232.4:c.545_546insT	ENSP00000483686.1:p.Leu183AlafsTer11
NM_000402.4:c.635_636insT	NP_000393.4:p.Leu213AlafsTer11
NM_001042351.2:c.545_546insT	NP_001035810.1:p.Leu183AlafsTer11
XM_005274657.2:c.638_639insT	XP_005274714.1:p.Leu214AlafsTer11
XM_005274658.2:c.548_549insT	XP_005274715.1:p.Leu184AlafsTer11
XM_011531132.1:c.638_639insT	XP_011529434.1:p.Leu214AlafsTer11
NM_001360016.2:c.545_546insT MANE Select	NP_001346945.1:p.Leu183AlafsTer11
NM_001042351.3:c.545_546insT	NP_001035810.1:p.Leu183AlafsTer11