Canonical Allele Identifier: CA2824282575
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534417_154534422del , CM000685.2:g.154534417_154534422del GRCh38
NC_000023.10:g.153762632_153762637del , CM000685.1:g.153762632_153762637del GRCh37
NC_000023.9:g.153415826_153415831del NCBI36
NG_009015.2:g.18151_18156del

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.560_565del ENSP00000377194.2:p.Ile187_Ser189delinsThr
ENST00000439227.6:c.563_568del ENSP00000395599.2:p.Ile188_Ser190delinsThr
ENST00000696420.1:c.560_565del ENSP00000512615.1:p.Ile187_Ser189delinsThr
ENST00000696421.1:c.560_565del ENSP00000512616.1:p.Ile187_Ser189delinsThr
ENST00000696422.1:c.423_428del
ENST00000696423.1:c.426_431del
ENST00000696424.1:c.440_445del ENSP00000512619.1:p.Ile147_Ser149delinsThr
ENST00000696425.1:c.560_565del ENSP00000512620.1:p.Ile187_Ser189delinsThr
ENST00000696426.1:c.560_565del ENSP00000512621.1:p.Ile187_Ser189delinsThr
ENST00000696427.1:c.560_565del ENSP00000512622.1:p.Ile187_Ser189delinsThr
ENST00000696428.1:c.*402_*407del ENSP00000512623.1:n.*402_*407del
ENST00000696429.1:c.560_565del ENSP00000512624.1:p.Ile187_Ser189delinsThr
ENST00000696430.1:c.560_565del ENSP00000512625.1:p.Ile187_Ser189delinsThr
ENST00000393562.10:c.560_565del MANE Select ENSP00000377192.3:p.Ile187_Ser189delinsThr
ENST00000369620.6:c.560_565del ENSP00000358633.2:p.Ile187_Ser189delinsThr
ENST00000393562.6:c.650_655del ENSP00000377192.2:p.Ile217_Ser219delinsThr
ENST00000393564.6:c.560_565del ENSP00000377194.2:p.Ile187_Ser189delinsThr
ENST00000433845.1:c.560_565del ENSP00000394690.1:p.Ile187_Ser189delinsThr
ENST00000439227.5:c.563_568del ENSP00000395599.1:p.Ile188_Ser190delinsThr
ENST00000440967.5:c.563_568del ENSP00000400648.1:p.Ile188_Ser190delinsThr
ENST00000621232.4:c.560_565del ENSP00000483686.1:p.Ile187_Ser189delinsThr
NM_000402.4:c.650_655del NP_000393.4:p.Ile217_Ser219delinsThr
NM_001042351.2:c.560_565del NP_001035810.1:p.Ile187_Ser189delinsThr
XM_005274657.2:c.653_658del XP_005274714.1:p.Ile218_Ser220delinsThr
XM_005274658.2:c.563_568del XP_005274715.1:p.Ile188_Ser190delinsThr
XM_011531132.1:c.653_658del XP_011529434.1:p.Ile218_Ser220delinsThr
NM_001360016.2:c.560_565del MANE Select NP_001346945.1:p.Ile187_Ser189delinsThr
NM_001042351.3:c.560_565del NP_001035810.1:p.Ile187_Ser189delinsThr