Canonical Allele Identifier: CA2579742030
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532926_154532927del , CM000685.2:g.154532926_154532927del GRCh38
NC_000023.10:g.153761141_153761142del , CM000685.1:g.153761141_153761142del GRCh37
NC_000023.9:g.153414335_153414336del NCBI36
NG_009015.2:g.19646_19647del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1051+15_1051+16del ENSP00000377194.2:n.1051+15_1051+16del
ENST00000439227.6:c.1054+15_1054+16del ENSP00000395599.2:n.1054+15_1054+16del
ENST00000696420.1:c.1051+15_1051+16del ENSP00000512615.1:n.1051+15_1051+16del
ENST00000696421.1:c.1051+15_1051+16del ENSP00000512616.1:n.1051+15_1051+16del
ENST00000696422.1:c.914+15_914+16del
ENST00000696423.1:c.917+15_917+16del
ENST00000696424.1:c.903+15_903+16del ENSP00000512619.1:n.903+15_903+16del
ENST00000696425.1:c.865-125_865-124del ENSP00000512620.1:n.865-125_865-124del
ENST00000696426.1:c.*511+15_*511+16del ENSP00000512621.1:n.*511+15_*511+16del
ENST00000696427.1:c.*11+15_*11+16del ENSP00000512622.1:n.*11+15_*11+16del
ENST00000696428.1:c.*893+15_*893+16del ENSP00000512623.1:n.*893+15_*893+16del
ENST00000696429.1:c.1051+15_1051+16del ENSP00000512624.1:n.1051+15_1051+16del
ENST00000696430.1:c.1051+15_1051+16del ENSP00000512625.1:n.1051+15_1051+16del
ENST00000393562.10:c.1051+15_1051+16del MANE Select ENSP00000377192.3:n.1051+15_1051+16del
ENST00000369620.6:c.1189+15_1189+16del ENSP00000358633.2:n.1189+15_1189+16del
ENST00000393562.6:c.1141+15_1141+16del ENSP00000377192.2:n.1141+15_1141+16del
ENST00000393564.6:c.1051+15_1051+16del ENSP00000377194.2:n.1051+15_1051+16del
ENST00000490651.1:n.148_149del
ENST00000621232.4:c.1051+15_1051+16del ENSP00000483686.1:n.1051+15_1051+16del
NM_000402.4:c.1141+15_1141+16del NP_000393.4:n.1141+15_1141+16del
NM_001042351.2:c.1051+15_1051+16del NP_001035810.1:n.1051+15_1051+16del
XM_005274657.2:c.1144+15_1144+16del XP_005274714.1:n.1144+15_1144+16del
XM_005274658.2:c.1054+15_1054+16del XP_005274715.1:n.1054+15_1054+16del
XM_011531132.1:c.958-125_958-124del XP_011529434.1:n.958-125_958-124del
NM_001360016.2:c.1051+15_1051+16del MANE Select NP_001346945.1:n.1051+15_1051+16del
NM_001042351.3:c.1051+15_1051+16del NP_001035810.1:n.1051+15_1051+16del