Canonical Allele Identifier: CA3275512870
Community Standard Title: NM_001360016.2(G6PD):c.1057_1058delinsAG (p.Pro353Ser)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532796_154532797delinsCT , CM000685.2:g.154532796_154532797delinsCT GRCh38
NC_000023.10:g.153761011_153761012delinsCT , CM000685.1:g.153761011_153761012delinsCT GRCh37
NC_000023.9:g.153414205_153414206delinsCT NCBI36
NG_009015.2:g.19776_19777delinsAG

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.1057_1058delinsAG MANE Select NP_001346945.1:p.Pro353Ser
ENST00000393562.10:c.1057_1058delinsAG MANE Select ENSP00000377192.3:p.Pro353Ser
NM_000402.4:c.1147_1148delinsAG NP_000393.4:p.Pro383Ser
NM_001042351.2:c.1057_1058delinsAG NP_001035810.1:p.Pro353Ser
NM_001042351.3:c.1057_1058delinsAG NP_001035810.1:p.Pro353Ser
ENST00000369620.6:c.1195_1196delinsAG ENSP00000358633.2:p.Pro399Ser
ENST00000393562.6:c.1147_1148delinsAG ENSP00000377192.2:p.Pro383Ser
ENST00000393564.6:c.1057_1058delinsAG ENSP00000377194.2:p.Pro353Ser
ENST00000393564.7:c.1057_1058delinsAG ENSP00000377194.2:p.Pro353Ser
ENST00000439227.6:c.1060_1061delinsAG ENSP00000395599.2:p.Pro354Ser
ENST00000490651.1:n.278_279delinsAG
ENST00000621232.4:c.1057_1058delinsAG ENSP00000483686.1:p.Pro353Ser
ENST00000696420.1:c.1057_1058delinsAG ENSP00000512615.1:p.Pro353Ser
ENST00000696421.1:c.1057_1058delinsAG ENSP00000512616.1:p.Pro353Ser
ENST00000696422.1:c.920_921delinsAG
ENST00000696423.1:c.923_924delinsAG
ENST00000696424.1:c.909_910delinsAG ENSP00000512619.1:n.909_910delinsAG
ENST00000696425.1:c.870_871delinsAG ENSP00000512620.1:p.Cys290Ter
ENST00000696426.1:c.*517_*518delinsAG ENSP00000512621.1:n.*517_*518delinsAG
ENST00000696427.1:c.*17_*18delinsAG ENSP00000512622.1:n.*17_*18delinsAG
ENST00000696428.1:c.*899_*900delinsAG ENSP00000512623.1:n.*899_*900delinsAG
ENST00000696429.1:c.1057_1058delinsAG ENSP00000512624.1:p.Pro353Ser
ENST00000696430.1:c.1057_1058delinsAG ENSP00000512625.1:p.Pro353Ser
XM_005274657.2:c.1150_1151delinsAG XP_005274714.1:p.Pro384Ser
XM_005274658.2:c.1060_1061delinsAG XP_005274715.1:p.Pro354Ser
XM_011531132.1:c.963_964delinsAG XP_011529434.1:p.Cys321Ter