Canonical Allele Identifier: CA3275522324
Community Standard Title: NM_001360016.2(G6PD):c.1229_1230delinsCT (p.Gly410Ala)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532624_154532625delinsAG , CM000685.2:g.154532624_154532625delinsAG GRCh38
NC_000023.10:g.153760839_153760840delinsAG , CM000685.1:g.153760839_153760840delinsAG GRCh37
NC_000023.9:g.153414033_153414034delinsAG NCBI36
NG_009015.2:g.19948_19949delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.1229_1230delinsCT MANE Select NP_001346945.1:p.Gly410Ala
ENST00000393562.10:c.1229_1230delinsCT MANE Select ENSP00000377192.3:p.Gly410Ala
NM_000402.4:c.1319_1320delinsCT NP_000393.4:p.Gly440Ala
NM_001042351.2:c.1229_1230delinsCT NP_001035810.1:p.Gly410Ala
NM_001042351.3:c.1229_1230delinsCT NP_001035810.1:p.Gly410Ala
ENST00000369620.6:c.1367_1368delinsCT ENSP00000358633.2:p.Gly456Ala
ENST00000393562.6:c.1319_1320delinsCT ENSP00000377192.2:p.Gly440Ala
ENST00000393564.6:c.1229_1230delinsCT ENSP00000377194.2:p.Gly410Ala
ENST00000393564.7:c.1229_1230delinsCT ENSP00000377194.2:p.Gly410Ala
ENST00000439227.6:c.1232_1233delinsCT ENSP00000395599.2:p.Gly411Ala
ENST00000490651.1:n.450_451delinsCT
ENST00000621232.4:c.1229_1230delinsCT ENSP00000483686.1:p.Gly410Ala
ENST00000696420.1:c.1229_1230delinsCT ENSP00000512615.1:p.Gly410Ala
ENST00000696421.1:c.1229_1230delinsCT ENSP00000512616.1:p.Gly410Ala
ENST00000696422.1:c.1092_1093delinsCT
ENST00000696423.1:c.1095_1096delinsCT
ENST00000696424.1:c.1081_1082delinsCT ENSP00000512619.1:n.1081_1082delinsCT
ENST00000696425.1:c.*142_*143delinsCT ENSP00000512620.1:n.*142_*143delinsCT
ENST00000696426.1:c.*689_*690delinsCT ENSP00000512621.1:n.*689_*690delinsCT
ENST00000696427.1:c.*189_*190delinsCT ENSP00000512622.1:n.*189_*190delinsCT
ENST00000696428.1:c.*1071_*1072delinsCT ENSP00000512623.1:n.*1071_*1072delinsCT
ENST00000696429.1:c.1229_1230delinsCT ENSP00000512624.1:p.Gly410Ala
ENST00000696430.1:c.1229_1230delinsCT ENSP00000512625.1:p.Gly410Ala
XM_005274657.2:c.1322_1323delinsCT XP_005274714.1:p.Gly441Ala
XM_005274658.2:c.1232_1233delinsCT XP_005274715.1:p.Gly411Ala
XM_011531132.1:c.*142_*143delinsCT XP_011529434.1:n.*142_*143delinsCT