Canonical Allele Identifier: CA3275525512
Community Standard Title: NM_001360016.2(G6PD):c.1153_1155delinsAGG (p.Cys385Arg)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532699_154532701delinsCCT , CM000685.2:g.154532699_154532701delinsCCT GRCh38
NC_000023.10:g.153760914_153760916delinsCCT , CM000685.1:g.153760914_153760916delinsCCT GRCh37
NC_000023.9:g.153414108_153414110delinsCCT NCBI36
NG_009015.2:g.19872_19874delinsAGG

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.1153_1155delinsAGG MANE Select NP_001346945.1:p.Cys385Arg
ENST00000393562.10:c.1153_1155delinsAGG MANE Select ENSP00000377192.3:p.Cys385Arg
NM_000402.4:c.1243_1245delinsAGG NP_000393.4:p.Cys415Arg
NM_001042351.2:c.1153_1155delinsAGG NP_001035810.1:p.Cys385Arg
NM_001042351.3:c.1153_1155delinsAGG NP_001035810.1:p.Cys385Arg
ENST00000369620.6:c.1291_1293delinsAGG ENSP00000358633.2:p.Cys431Arg
ENST00000393562.6:c.1243_1245delinsAGG ENSP00000377192.2:p.Cys415Arg
ENST00000393564.6:c.1153_1155delinsAGG ENSP00000377194.2:p.Cys385Arg
ENST00000393564.7:c.1153_1155delinsAGG ENSP00000377194.2:p.Cys385Arg
ENST00000439227.6:c.1156_1158delinsAGG ENSP00000395599.2:p.Cys386Arg
ENST00000490651.1:n.374_376delinsAGG
ENST00000621232.4:c.1153_1155delinsAGG ENSP00000483686.1:p.Cys385Arg
ENST00000696420.1:c.1153_1155delinsAGG ENSP00000512615.1:p.Cys385Arg
ENST00000696421.1:c.1153_1155delinsAGG ENSP00000512616.1:p.Cys385Arg
ENST00000696422.1:c.1016_1018delinsAGG
ENST00000696423.1:c.1019_1021delinsAGG
ENST00000696424.1:c.1005_1007delinsAGG ENSP00000512619.1:n.1005_1007delinsAGG
ENST00000696425.1:c.*66_*68delinsAGG ENSP00000512620.1:n.*66_*68delinsAGG
ENST00000696426.1:c.*613_*615delinsAGG ENSP00000512621.1:n.*613_*615delinsAGG
ENST00000696427.1:c.*113_*115delinsAGG ENSP00000512622.1:n.*113_*115delinsAGG
ENST00000696428.1:c.*995_*997delinsAGG ENSP00000512623.1:n.*995_*997delinsAGG
ENST00000696429.1:c.1153_1155delinsAGG ENSP00000512624.1:p.Cys385Arg
ENST00000696430.1:c.1153_1155delinsAGG ENSP00000512625.1:p.Cys385Arg
XM_005274657.2:c.1246_1248delinsAGG XP_005274714.1:p.Cys416Arg
XM_005274658.2:c.1156_1158delinsAGG XP_005274715.1:p.Cys386Arg
XM_011531132.1:c.*66_*68delinsAGG XP_011529434.1:n.*66_*68delinsAGG