Canonical Allele Identifier: CA2579742031
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533104_154533107del , CM000685.2:g.154533104_154533107del GRCh38
NC_000023.10:g.153761319_153761322del , CM000685.1:g.153761319_153761322del GRCh37
NC_000023.9:g.153414513_153414516del NCBI36
NG_009015.2:g.19466_19469del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.886_889del ENSP00000377194.2:p.Ser296ArgfsTer?
ENST00000439227.6:c.889_892del ENSP00000395599.2:p.Ser297ArgfsTer?
ENST00000696420.1:c.886_889del ENSP00000512615.1:p.Ser296ArgfsTer?
ENST00000696421.1:c.886_889del ENSP00000512616.1:p.Ser296ArgfsTer?
ENST00000696422.1:c.749_752del
ENST00000696423.1:c.752_755del
ENST00000696424.1:c.738_741del ENSP00000512619.1:n.738_741del
ENST00000696425.1:c.865-305_865-302del ENSP00000512620.1:n.865-305_865-302del
ENST00000696426.1:c.*346_*349del ENSP00000512621.1:n.*346_*349del
ENST00000696427.1:c.893_896del ENSP00000512622.1:p.Leu298GlnfsTer?
ENST00000696428.1:c.*728_*731del ENSP00000512623.1:n.*728_*731del
ENST00000696429.1:c.886_889del ENSP00000512624.1:p.Ser296ArgfsTer?
ENST00000696430.1:c.886_889del ENSP00000512625.1:p.Ser296ArgfsTer?
ENST00000393562.10:c.886_889del MANE Select ENSP00000377192.3:p.Ser296ArgfsTer?
ENST00000369620.6:c.1024_1027del ENSP00000358633.2:p.Ser342ArgfsTer?
ENST00000393562.6:c.976_979del ENSP00000377192.2:p.Ser326ArgfsTer?
ENST00000393564.6:c.886_889del ENSP00000377194.2:p.Ser296ArgfsTer?
ENST00000439227.5:c.889_892del ENSP00000395599.1:p.Ser297ArgfsTer?
ENST00000440967.5:c.889_892del ENSP00000400648.1:p.Ser297ArgfsTer?
ENST00000621232.4:c.886_889del ENSP00000483686.1:p.Ser296ArgfsTer?
NM_000402.4:c.976_979del NP_000393.4:p.Ser326ArgfsTer?
NM_001042351.2:c.886_889del NP_001035810.1:p.Ser296ArgfsTer?
XM_005274657.2:c.979_982del XP_005274714.1:p.Ser327ArgfsTer?
XM_005274658.2:c.889_892del XP_005274715.1:p.Ser297ArgfsTer?
XM_011531132.1:c.958-305_958-302del XP_011529434.1:n.958-305_958-302del
NM_001360016.2:c.886_889del MANE Select NP_001346945.1:p.Ser296ArgfsTer?
NM_001042351.3:c.886_889del NP_001035810.1:p.Ser296ArgfsTer?