Canonical Allele Identifier: CA3275534874
Community Standard Title: NM_001360016.2(G6PD):c.131_132delinsGA (p.Ala44Gly)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154536167_154536168delinsTC , CM000685.2:g.154536167_154536168delinsTC GRCh38
NC_000023.10:g.153764382_153764383delinsTC , CM000685.1:g.153764382_153764383delinsTC GRCh37
NC_000023.9:g.153417576_153417577delinsTC NCBI36
NG_009015.2:g.16405_16406delinsGA

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.131_132delinsGA MANE Select NP_001346945.1:p.Ala44Gly
ENST00000393562.10:c.131_132delinsGA MANE Select ENSP00000377192.3:p.Ala44Gly
NM_000402.4:c.221_222delinsGA NP_000393.4:p.Ala74Gly
NM_001042351.2:c.131_132delinsGA NP_001035810.1:p.Ala44Gly
NM_001042351.3:c.131_132delinsGA NP_001035810.1:p.Ala44Gly
ENST00000369620.6:c.131_132delinsGA ENSP00000358633.2:p.Ala44Gly
ENST00000393562.6:c.221_222delinsGA ENSP00000377192.2:p.Ala74Gly
ENST00000393564.6:c.131_132delinsGA ENSP00000377194.2:p.Ala44Gly
ENST00000393564.7:c.131_132delinsGA ENSP00000377194.2:p.Ala44Gly
ENST00000433845.1:c.131_132delinsGA ENSP00000394690.1:p.Ala44Gly
ENST00000439227.5:c.131_132delinsGA ENSP00000395599.1:p.Ala44Gly
ENST00000439227.6:c.131_132delinsGA ENSP00000395599.2:p.Ala44Gly
ENST00000440967.5:c.131_132delinsGA ENSP00000400648.1:p.Ala44Gly
ENST00000488434.1:n.85_86delinsGA
ENST00000497281.5:n.85_86delinsGA
ENST00000621232.4:c.131_132delinsGA ENSP00000483686.1:p.Ala44Gly
ENST00000696420.1:c.131_132delinsGA ENSP00000512615.1:p.Ala44Gly
ENST00000696421.1:c.131_132delinsGA ENSP00000512616.1:p.Ala44Gly
ENST00000696422.1:c.11_12delinsGA
ENST00000696423.1:c.11_12delinsGA
ENST00000696424.1:c.11_12delinsGA ENSP00000512619.1:p.Ala4Gly
ENST00000696425.1:c.131_132delinsGA ENSP00000512620.1:p.Ala44Gly
ENST00000696426.1:c.131_132delinsGA ENSP00000512621.1:p.Ala44Gly
ENST00000696427.1:c.131_132delinsGA ENSP00000512622.1:p.Ala44Gly
ENST00000696428.1:c.131_132delinsGA ENSP00000512623.1:p.Ala44Gly
ENST00000696429.1:c.131_132delinsGA ENSP00000512624.1:p.Ala44Gly
ENST00000696430.1:c.131_132delinsGA ENSP00000512625.1:p.Ala44Gly
ENST00000696431.1:c.131_132delinsGA ENSP00000512626.1:p.Ala44Gly
XM_005274657.2:c.221_222delinsGA XP_005274714.1:p.Ala74Gly
XM_005274658.2:c.131_132delinsGA XP_005274715.1:p.Ala44Gly
XM_011531132.1:c.221_222delinsGA XP_011529434.1:p.Ala74Gly