Canonical Allele Identifier: CA3275524289
Community Standard Title: NM_001360016.2(G6PD):c.1187_1188delinsTT (p.Pro396Leu)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532666_154532667delinsAA , CM000685.2:g.154532666_154532667delinsAA GRCh38
NC_000023.10:g.153760881_153760882delinsAA , CM000685.1:g.153760881_153760882delinsAA GRCh37
NC_000023.9:g.153414075_153414076delinsAA NCBI36
NG_009015.2:g.19906_19907delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.1187_1188delinsTT MANE Select NP_001346945.1:p.Pro396Leu
ENST00000393562.10:c.1187_1188delinsTT MANE Select ENSP00000377192.3:p.Pro396Leu
NM_000402.4:c.1277_1278delinsTT NP_000393.4:p.Pro426Leu
NM_001042351.2:c.1187_1188delinsTT NP_001035810.1:p.Pro396Leu
NM_001042351.3:c.1187_1188delinsTT NP_001035810.1:p.Pro396Leu
ENST00000369620.6:c.1325_1326delinsTT ENSP00000358633.2:p.Pro442Leu
ENST00000393562.6:c.1277_1278delinsTT ENSP00000377192.2:p.Pro426Leu
ENST00000393564.6:c.1187_1188delinsTT ENSP00000377194.2:p.Pro396Leu
ENST00000393564.7:c.1187_1188delinsTT ENSP00000377194.2:p.Pro396Leu
ENST00000439227.6:c.1190_1191delinsTT ENSP00000395599.2:p.Pro397Leu
ENST00000490651.1:n.408_409delinsTT
ENST00000621232.4:c.1187_1188delinsTT ENSP00000483686.1:p.Pro396Leu
ENST00000696420.1:c.1187_1188delinsTT ENSP00000512615.1:p.Pro396Leu
ENST00000696421.1:c.1187_1188delinsTT ENSP00000512616.1:p.Pro396Leu
ENST00000696422.1:c.1050_1051delinsTT
ENST00000696423.1:c.1053_1054delinsTT
ENST00000696424.1:c.1039_1040delinsTT ENSP00000512619.1:n.1039_1040delinsTT
ENST00000696425.1:c.*100_*101delinsTT ENSP00000512620.1:n.*100_*101delinsTT
ENST00000696426.1:c.*647_*648delinsTT ENSP00000512621.1:n.*647_*648delinsTT
ENST00000696427.1:c.*147_*148delinsTT ENSP00000512622.1:n.*147_*148delinsTT
ENST00000696428.1:c.*1029_*1030delinsTT ENSP00000512623.1:n.*1029_*1030delinsTT
ENST00000696429.1:c.1187_1188delinsTT ENSP00000512624.1:p.Pro396Leu
ENST00000696430.1:c.1187_1188delinsTT ENSP00000512625.1:p.Pro396Leu
XM_005274657.2:c.1280_1281delinsTT XP_005274714.1:p.Pro427Leu
XM_005274658.2:c.1190_1191delinsTT XP_005274715.1:p.Pro397Leu
XM_011531132.1:c.*100_*101delinsTT XP_011529434.1:n.*100_*101delinsTT