Canonical Allele Identifier: CA3275524282
Community Standard Title: NM_001360016.2(G6PD):c.1186_1188delinsAGG (p.Pro396Arg)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532666_154532668delinsCCT , CM000685.2:g.154532666_154532668delinsCCT GRCh38
NC_000023.10:g.153760881_153760883delinsCCT , CM000685.1:g.153760881_153760883delinsCCT GRCh37
NC_000023.9:g.153414075_153414077delinsCCT NCBI36
NG_009015.2:g.19905_19907delinsAGG

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.1186_1188delinsAGG MANE Select NP_001346945.1:p.Pro396Arg
ENST00000393562.10:c.1186_1188delinsAGG MANE Select ENSP00000377192.3:p.Pro396Arg
NM_000402.4:c.1276_1278delinsAGG NP_000393.4:p.Pro426Arg
NM_001042351.2:c.1186_1188delinsAGG NP_001035810.1:p.Pro396Arg
NM_001042351.3:c.1186_1188delinsAGG NP_001035810.1:p.Pro396Arg
ENST00000369620.6:c.1324_1326delinsAGG ENSP00000358633.2:p.Pro442Arg
ENST00000393562.6:c.1276_1278delinsAGG ENSP00000377192.2:p.Pro426Arg
ENST00000393564.6:c.1186_1188delinsAGG ENSP00000377194.2:p.Pro396Arg
ENST00000393564.7:c.1186_1188delinsAGG ENSP00000377194.2:p.Pro396Arg
ENST00000439227.6:c.1189_1191delinsAGG ENSP00000395599.2:p.Pro397Arg
ENST00000490651.1:n.407_409delinsAGG
ENST00000621232.4:c.1186_1188delinsAGG ENSP00000483686.1:p.Pro396Arg
ENST00000696420.1:c.1186_1188delinsAGG ENSP00000512615.1:p.Pro396Arg
ENST00000696421.1:c.1186_1188delinsAGG ENSP00000512616.1:p.Pro396Arg
ENST00000696422.1:c.1049_1051delinsAGG
ENST00000696423.1:c.1052_1054delinsAGG
ENST00000696424.1:c.1038_1040delinsAGG ENSP00000512619.1:n.1038_1040delinsAGG
ENST00000696425.1:c.*99_*101delinsAGG ENSP00000512620.1:n.*99_*101delinsAGG
ENST00000696426.1:c.*646_*648delinsAGG ENSP00000512621.1:n.*646_*648delinsAGG
ENST00000696427.1:c.*146_*148delinsAGG ENSP00000512622.1:n.*146_*148delinsAGG
ENST00000696428.1:c.*1028_*1030delinsAGG ENSP00000512623.1:n.*1028_*1030delinsAGG
ENST00000696429.1:c.1186_1188delinsAGG ENSP00000512624.1:p.Pro396Arg
ENST00000696430.1:c.1186_1188delinsAGG ENSP00000512625.1:p.Pro396Arg
XM_005274657.2:c.1279_1281delinsAGG XP_005274714.1:p.Pro427Arg
XM_005274658.2:c.1189_1191delinsAGG XP_005274715.1:p.Pro397Arg
XM_011531132.1:c.*99_*101delinsAGG XP_011529434.1:n.*99_*101delinsAGG