Canonical Allele Identifier: CA3275524276
Community Standard Title: NM_001360016.2(G6PD):c.1187_1188delinsTA (p.Pro396Leu)
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532666_154532667delinsTA , CM000685.2:g.154532666_154532667delinsTA GRCh38
NC_000023.10:g.153760881_153760882delinsTA , CM000685.1:g.153760881_153760882delinsTA GRCh37
NC_000023.9:g.153414075_153414076delinsTA NCBI36
NG_009015.2:g.19906_19907delinsTA

Transcript Alleles

HGVS Amino-acid Change
NM_001360016.2:c.1187_1188delinsTA MANE Select NP_001346945.1:p.Pro396Leu
ENST00000393562.10:c.1187_1188delinsTA MANE Select ENSP00000377192.3:p.Pro396Leu
NM_000402.4:c.1277_1278delinsTA NP_000393.4:p.Pro426Leu
NM_001042351.2:c.1187_1188delinsTA NP_001035810.1:p.Pro396Leu
NM_001042351.3:c.1187_1188delinsTA NP_001035810.1:p.Pro396Leu
ENST00000369620.6:c.1325_1326delinsTA ENSP00000358633.2:p.Pro442Leu
ENST00000393562.6:c.1277_1278delinsTA ENSP00000377192.2:p.Pro426Leu
ENST00000393564.6:c.1187_1188delinsTA ENSP00000377194.2:p.Pro396Leu
ENST00000393564.7:c.1187_1188delinsTA ENSP00000377194.2:p.Pro396Leu
ENST00000439227.6:c.1190_1191delinsTA ENSP00000395599.2:p.Pro397Leu
ENST00000490651.1:n.408_409delinsTA
ENST00000621232.4:c.1187_1188delinsTA ENSP00000483686.1:p.Pro396Leu
ENST00000696420.1:c.1187_1188delinsTA ENSP00000512615.1:p.Pro396Leu
ENST00000696421.1:c.1187_1188delinsTA ENSP00000512616.1:p.Pro396Leu
ENST00000696422.1:c.1050_1051delinsTA
ENST00000696423.1:c.1053_1054delinsTA
ENST00000696424.1:c.1039_1040delinsTA ENSP00000512619.1:n.1039_1040delinsTA
ENST00000696425.1:c.*100_*101delinsTA ENSP00000512620.1:n.*100_*101delinsTA
ENST00000696426.1:c.*647_*648delinsTA ENSP00000512621.1:n.*647_*648delinsTA
ENST00000696427.1:c.*147_*148delinsTA ENSP00000512622.1:n.*147_*148delinsTA
ENST00000696428.1:c.*1029_*1030delinsTA ENSP00000512623.1:n.*1029_*1030delinsTA
ENST00000696429.1:c.1187_1188delinsTA ENSP00000512624.1:p.Pro396Leu
ENST00000696430.1:c.1187_1188delinsTA ENSP00000512625.1:p.Pro396Leu
XM_005274657.2:c.1280_1281delinsTA XP_005274714.1:p.Pro427Leu
XM_005274658.2:c.1190_1191delinsTA XP_005274715.1:p.Pro397Leu
XM_011531132.1:c.*100_*101delinsTA XP_011529434.1:n.*100_*101delinsTA