Canonical Allele Identifier: CA2505477723

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532194_154532195del , CM000685.2:g.154532194_154532195del	GRCh38
NC_000023.10:g.153760409_153760410del , CM000685.1:g.153760409_153760410del	GRCh37
NC_000023.9:g.153413603_153413604del	NCBI36
NG_009015.2:g.20379_20380del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1451_1452del	ENSP00000377194.2:p.Tyr484TrpfsTer20
ENST00000439227.6:c.1454_1455del	ENSP00000395599.2:p.Tyr485TrpfsTer20
ENST00000696420.1:c.1451_1452del	ENSP00000512615.1:p.Tyr484TrpfsTer?
ENST00000696421.1:c.1451_1452del	ENSP00000512616.1:p.Tyr484TrpfsTer13
ENST00000696422.1:c.1314_1315del
ENST00000696423.1:c.1317_1318del
ENST00000696424.1:c.1303_1304del	ENSP00000512619.1:n.1303_1304del
ENST00000696425.1:c.*364_*365del	ENSP00000512620.1:n.*364_*365del
ENST00000696426.1:c.*911_*912del	ENSP00000512621.1:n.*911_*912del
ENST00000696427.1:c.*411_*412del	ENSP00000512622.1:n.*411_*412del
ENST00000696428.1:c.*1293_*1294del	ENSP00000512623.1:n.*1293_*1294del
ENST00000696429.1:c.1451_1452del	ENSP00000512624.1:p.Tyr484TrpfsTer20
ENST00000696430.1:c.1451_1452del	ENSP00000512625.1:p.Tyr484TrpfsTer20
ENST00000393562.10:c.1451_1452del MANE Select	ENSP00000377192.3:p.Tyr484TrpfsTer20
ENST00000369620.6:c.1589_1590del	ENSP00000358633.2:p.Tyr530TrpfsTer20
ENST00000393562.6:c.1541_1542del	ENSP00000377192.2:p.Tyr514TrpfsTer20
ENST00000393564.6:c.1451_1452del	ENSP00000377194.2:p.Tyr484TrpfsTer20
ENST00000490651.1:n.672_673del
ENST00000621232.4:c.1451_1452del	ENSP00000483686.1:p.Tyr484TrpfsTer20
NM_000402.4:c.1541_1542del	NP_000393.4:p.Tyr514TrpfsTer20
NM_001042351.2:c.1451_1452del	NP_001035810.1:p.Tyr484TrpfsTer20
XM_005274657.2:c.1544_1545del	XP_005274714.1:p.Tyr515TrpfsTer20
XM_005274658.2:c.1454_1455del	XP_005274715.1:p.Tyr485TrpfsTer20
NM_001360016.2:c.1451_1452del MANE Select	NP_001346945.1:p.Tyr484TrpfsTer20
NM_001042351.3:c.1451_1452del	NP_001035810.1:p.Tyr484TrpfsTer20