Canonical Allele Identifier: CA2739246379
Gene: G6PD HGNC NCBI

Linked Data

dbSNP Id: rs2148328228

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532114_154532115del , CM000685.2:g.154532114_154532115del GRCh38
NC_000023.10:g.153760329_153760330del , CM000685.1:g.153760329_153760330del GRCh37
NC_000023.9:g.153413523_153413524del NCBI36
NG_009015.2:g.20461_20462del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.1458-22_1458-21del ENSP00000377194.2:n.1458-22_1458-21del
ENST00000439227.6:c.1461-22_1461-21del ENSP00000395599.2:n.1461-22_1461-21del
ENST00000696420.1:c.1457+76_1457+77del ENSP00000512615.1:n.1457+76_1457+77del
ENST00000696421.1:c.1457+76_1457+77del ENSP00000512616.1:n.1457+76_1457+77del
ENST00000696422.1:c.1321-22_1321-21del
ENST00000696423.1:c.1324-22_1324-21del
ENST00000696424.1:c.1310-22_1310-21del ENSP00000512619.1:n.1310-22_1310-21del
ENST00000696425.1:c.*371-22_*371-21del ENSP00000512620.1:n.*371-22_*371-21del
ENST00000696426.1:c.*918-22_*918-21del ENSP00000512621.1:n.*918-22_*918-21del
ENST00000696427.1:c.*418-22_*418-21del ENSP00000512622.1:n.*418-22_*418-21del
ENST00000696428.1:c.*1300-22_*1300-21del ENSP00000512623.1:n.*1300-22_*1300-21del
ENST00000696429.1:c.1458-22_1458-21del ENSP00000512624.1:n.1458-22_1458-21del
ENST00000696430.1:c.1458-22_1458-21del ENSP00000512625.1:n.1458-22_1458-21del
ENST00000393562.10:c.1458-22_1458-21del MANE Select ENSP00000377192.3:n.1458-22_1458-21del
ENST00000369620.6:c.1596-22_1596-21del ENSP00000358633.2:n.1596-22_1596-21del
ENST00000393562.6:c.1548-22_1548-21del ENSP00000377192.2:n.1548-22_1548-21del
ENST00000393564.6:c.1458-22_1458-21del ENSP00000377194.2:n.1458-22_1458-21del
ENST00000490651.1:n.754_755del
ENST00000621232.4:c.1458-22_1458-21del ENSP00000483686.1:n.1458-22_1458-21del
NM_000402.4:c.1548-22_1548-21del NP_000393.4:n.1548-22_1548-21del
NM_001042351.2:c.1458-22_1458-21del NP_001035810.1:n.1458-22_1458-21del
XM_005274657.2:c.1551-22_1551-21del XP_005274714.1:n.1551-22_1551-21del
XM_005274658.2:c.1461-22_1461-21del XP_005274715.1:n.1461-22_1461-21del
NM_001360016.2:c.1458-22_1458-21del MANE Select NP_001346945.1:n.1458-22_1458-21del
NM_001042351.3:c.1458-22_1458-21del NP_001035810.1:n.1458-22_1458-21del