Canonical Allele Identifier: CA3275512806
Community Standard Title: NM_001360016.2(G6PD):c.1057_1059delinsTCG (p.Pro353Ser)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532795_154532797delinsCGA , CM000685.2:g.154532795_154532797delinsCGA GRCh38
NC_000023.10:g.153761010_153761012delinsCGA , CM000685.1:g.153761010_153761012delinsCGA GRCh37
NC_000023.9:g.153414204_153414206delinsCGA NCBI36
NG_009015.2:g.19776_19778delinsTCG

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.1057_1059delinsTCG MANE Select NP_001346945.1:p.Pro353Ser
ENST00000393562.10:c.1057_1059delinsTCG MANE Select ENSP00000377192.3:p.Pro353Ser
NM_000402.4:c.1147_1149delinsTCG NP_000393.4:p.Pro383Ser
NM_001042351.2:c.1057_1059delinsTCG NP_001035810.1:p.Pro353Ser
NM_001042351.3:c.1057_1059delinsTCG NP_001035810.1:p.Pro353Ser
ENST00000369620.6:c.1195_1197delinsTCG ENSP00000358633.2:p.Pro399Ser
ENST00000393562.6:c.1147_1149delinsTCG ENSP00000377192.2:p.Pro383Ser
ENST00000393564.6:c.1057_1059delinsTCG ENSP00000377194.2:p.Pro353Ser
ENST00000393564.7:c.1057_1059delinsTCG ENSP00000377194.2:p.Pro353Ser
ENST00000439227.6:c.1060_1062delinsTCG ENSP00000395599.2:p.Pro354Ser
ENST00000490651.1:n.278_280delinsTCG
ENST00000621232.4:c.1057_1059delinsTCG ENSP00000483686.1:p.Pro353Ser
ENST00000696420.1:c.1057_1059delinsTCG ENSP00000512615.1:p.Pro353Ser
ENST00000696421.1:c.1057_1059delinsTCG ENSP00000512616.1:p.Pro353Ser
ENST00000696422.1:c.920_922delinsTCG
ENST00000696423.1:c.923_925delinsTCG
ENST00000696424.1:c.909_911delinsTCG ENSP00000512619.1:n.909_911delinsTCG
ENST00000696425.1:c.870_872delinsTCG ENSP00000512620.1:p.Pro291Arg
ENST00000696426.1:c.*517_*519delinsTCG ENSP00000512621.1:n.*517_*519delinsTCG
ENST00000696427.1:c.*17_*19delinsTCG ENSP00000512622.1:n.*17_*19delinsTCG
ENST00000696428.1:c.*899_*901delinsTCG ENSP00000512623.1:n.*899_*901delinsTCG
ENST00000696429.1:c.1057_1059delinsTCG ENSP00000512624.1:p.Pro353Ser
ENST00000696430.1:c.1057_1059delinsTCG ENSP00000512625.1:p.Pro353Ser
XM_005274657.2:c.1150_1152delinsTCG XP_005274714.1:p.Pro384Ser
XM_005274658.2:c.1060_1062delinsTCG XP_005274715.1:p.Pro354Ser
XM_011531132.1:c.963_965delinsTCG XP_011529434.1:p.Pro322Arg