Canonical Allele Identifier: CA3275515970

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532268_154532269delinsGG , CM000685.2:g.154532268_154532269delinsGG	GRCh38
NC_000023.10:g.153760483_153760484delinsGG , CM000685.1:g.153760483_153760484delinsGG	GRCh37
NC_000023.9:g.153413677_153413678delinsGG	NCBI36
NG_009015.2:g.20304_20305delinsCC

Transcript Alleles

HGVS	Amino-acid Change
NM_001360016.2:c.1376_1377delinsCC MANE Select	NP_001346945.1:p.Arg459Pro
ENST00000393562.10:c.1376_1377delinsCC MANE Select	ENSP00000377192.3:p.Arg459Pro
NM_000402.4:c.1466_1467delinsCC	NP_000393.4:p.Arg489Pro
NM_001042351.2:c.1376_1377delinsCC	NP_001035810.1:p.Arg459Pro
NM_001042351.3:c.1376_1377delinsCC	NP_001035810.1:p.Arg459Pro
ENST00000369620.6:c.1514_1515delinsCC	ENSP00000358633.2:p.Arg505Pro
ENST00000393562.6:c.1466_1467delinsCC	ENSP00000377192.2:p.Arg489Pro
ENST00000393564.6:c.1376_1377delinsCC	ENSP00000377194.2:p.Arg459Pro
ENST00000393564.7:c.1376_1377delinsCC	ENSP00000377194.2:p.Arg459Pro
ENST00000439227.6:c.1379_1380delinsCC	ENSP00000395599.2:p.Arg460Pro
ENST00000490651.1:n.597_598delinsCC
ENST00000621232.4:c.1376_1377delinsCC	ENSP00000483686.1:p.Arg459Pro
ENST00000696420.1:c.1376_1377delinsCC	ENSP00000512615.1:p.Arg459Pro
ENST00000696421.1:c.1376_1377delinsCC	ENSP00000512616.1:p.Arg459Pro
ENST00000696422.1:c.1239_1240delinsCC
ENST00000696423.1:c.1242_1243delinsCC
ENST00000696424.1:c.1228_1229delinsCC	ENSP00000512619.1:n.1228_1229delinsCC
ENST00000696425.1:c.*289_*290delinsCC	ENSP00000512620.1:n.*289_*290delinsCC
ENST00000696426.1:c.*836_*837delinsCC	ENSP00000512621.1:n.*836_*837delinsCC
ENST00000696427.1:c.*336_*337delinsCC	ENSP00000512622.1:n.*336_*337delinsCC
ENST00000696428.1:c.*1218_*1219delinsCC	ENSP00000512623.1:n.*1218_*1219delinsCC
ENST00000696429.1:c.1376_1377delinsCC	ENSP00000512624.1:p.Arg459Pro
ENST00000696430.1:c.1376_1377delinsCC	ENSP00000512625.1:p.Arg459Pro
XM_005274657.2:c.1469_1470delinsCC	XP_005274714.1:p.Arg490Pro
XM_005274658.2:c.1379_1380delinsCC	XP_005274715.1:p.Arg460Pro