Canonical Allele Identifier: CA3275524280
Community Standard Title: NM_001360016.2(G6PD):c.1186_1188delinsTTG (p.Pro396Leu)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532666_154532668delinsCAA , CM000685.2:g.154532666_154532668delinsCAA GRCh38
NC_000023.10:g.153760881_153760883delinsCAA , CM000685.1:g.153760881_153760883delinsCAA GRCh37
NC_000023.9:g.153414075_153414077delinsCAA NCBI36
NG_009015.2:g.19905_19907delinsTTG

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.1186_1188delinsTTG MANE Select NP_001346945.1:p.Pro396Leu
ENST00000393562.10:c.1186_1188delinsTTG MANE Select ENSP00000377192.3:p.Pro396Leu
NM_000402.4:c.1276_1278delinsTTG NP_000393.4:p.Pro426Leu
NM_001042351.2:c.1186_1188delinsTTG NP_001035810.1:p.Pro396Leu
NM_001042351.3:c.1186_1188delinsTTG NP_001035810.1:p.Pro396Leu
ENST00000369620.6:c.1324_1326delinsTTG ENSP00000358633.2:p.Pro442Leu
ENST00000393562.6:c.1276_1278delinsTTG ENSP00000377192.2:p.Pro426Leu
ENST00000393564.6:c.1186_1188delinsTTG ENSP00000377194.2:p.Pro396Leu
ENST00000393564.7:c.1186_1188delinsTTG ENSP00000377194.2:p.Pro396Leu
ENST00000439227.6:c.1189_1191delinsTTG ENSP00000395599.2:p.Pro397Leu
ENST00000490651.1:n.407_409delinsTTG
ENST00000621232.4:c.1186_1188delinsTTG ENSP00000483686.1:p.Pro396Leu
ENST00000696420.1:c.1186_1188delinsTTG ENSP00000512615.1:p.Pro396Leu
ENST00000696421.1:c.1186_1188delinsTTG ENSP00000512616.1:p.Pro396Leu
ENST00000696422.1:c.1049_1051delinsTTG
ENST00000696423.1:c.1052_1054delinsTTG
ENST00000696424.1:c.1038_1040delinsTTG ENSP00000512619.1:n.1038_1040delinsTTG
ENST00000696425.1:c.*99_*101delinsTTG ENSP00000512620.1:n.*99_*101delinsTTG
ENST00000696426.1:c.*646_*648delinsTTG ENSP00000512621.1:n.*646_*648delinsTTG
ENST00000696427.1:c.*146_*148delinsTTG ENSP00000512622.1:n.*146_*148delinsTTG
ENST00000696428.1:c.*1028_*1030delinsTTG ENSP00000512623.1:n.*1028_*1030delinsTTG
ENST00000696429.1:c.1186_1188delinsTTG ENSP00000512624.1:p.Pro396Leu
ENST00000696430.1:c.1186_1188delinsTTG ENSP00000512625.1:p.Pro396Leu
XM_005274657.2:c.1279_1281delinsTTG XP_005274714.1:p.Pro427Leu
XM_005274658.2:c.1189_1191delinsTTG XP_005274715.1:p.Pro397Leu
XM_011531132.1:c.*99_*101delinsTTG XP_011529434.1:n.*99_*101delinsTTG