Canonical Allele Identifier: CA2546039599

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532423_154532424del , CM000685.2:g.154532423_154532424del	GRCh38
NC_000023.10:g.153760638_153760639del , CM000685.1:g.153760638_153760639del	GRCh37
NC_000023.9:g.153413832_153413833del	NCBI36
NG_009015.2:g.20149_20150del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1326_1327del	ENSP00000377194.2:p.Asp443ArgfsTer17
ENST00000439227.6:c.1329_1330del	ENSP00000395599.2:p.Asp444ArgfsTer17
ENST00000696420.1:c.1326_1327del	ENSP00000512615.1:p.Asp443ArgfsTer17
ENST00000696421.1:c.1326_1327del	ENSP00000512616.1:p.Asp443ArgfsTer17
ENST00000696422.1:c.1189_1190del
ENST00000696423.1:c.1192_1193del
ENST00000696424.1:c.1178_1179del	ENSP00000512619.1:n.1178_1179del
ENST00000696425.1:c.*239_*240del	ENSP00000512620.1:n.*239_*240del
ENST00000696426.1:c.*786_*787del	ENSP00000512621.1:n.*786_*787del
ENST00000696427.1:c.*286_*287del	ENSP00000512622.1:n.*286_*287del
ENST00000696428.1:c.*1168_*1169del	ENSP00000512623.1:n.*1168_*1169del
ENST00000696429.1:c.1326_1327del	ENSP00000512624.1:p.Asp443ArgfsTer17
ENST00000696430.1:c.1326_1327del	ENSP00000512625.1:p.Asp443ArgfsTer17
ENST00000393562.10:c.1326_1327del MANE Select	ENSP00000377192.3:p.Asp443ArgfsTer17
ENST00000369620.6:c.1464_1465del	ENSP00000358633.2:p.Asp489ArgfsTer17
ENST00000393562.6:c.1416_1417del	ENSP00000377192.2:p.Asp473ArgfsTer17
ENST00000393564.6:c.1326_1327del	ENSP00000377194.2:p.Asp443ArgfsTer17
ENST00000490651.1:n.547_548del
ENST00000621232.4:c.1326_1327del	ENSP00000483686.1:p.Asp443ArgfsTer17
NM_000402.4:c.1416_1417del	NP_000393.4:p.Asp473ArgfsTer17
NM_001042351.2:c.1326_1327del	NP_001035810.1:p.Asp443ArgfsTer17
XM_005274657.2:c.1419_1420del	XP_005274714.1:p.Asp474ArgfsTer17
XM_005274658.2:c.1329_1330del	XP_005274715.1:p.Asp444ArgfsTer17
NM_001360016.2:c.1326_1327del MANE Select	NP_001346945.1:p.Asp443ArgfsTer17
NM_001042351.3:c.1326_1327del	NP_001035810.1:p.Asp443ArgfsTer17