Canonical Allele Identifier: CA2250001309
Gene: PIGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16318225_16318226delinsAC , CM000679.2:g.16318225_16318226delinsAC GRCh38
NC_000017.10:g.16221539_16221540delinsAC , CM000679.1:g.16221539_16221540delinsAC GRCh37
NC_000017.9:g.16162264_16162265delinsAC NCBI36
NG_032651.1:g.106031_106032delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.660+317_660+318delinsAC MANE Select ENSP00000225609.5:n.660+317_660+318delinsAC
ENST00000225609.9:c.660+317_660+318delinsAC ENSP00000225609.5:n.660+317_660+318delinsAC
ENST00000395844.8:c.628+317_628+318delinsAC ENSP00000379185.3:n.628+317_628+318delinsAC
ENST00000477745.5:n.658+317_658+318delinsAC
ENST00000488375.2:n.518+317_518+318delinsAC
ENST00000581006.5:c.426+18247_426+18248delinsAC ENSP00000462432.1:n.426+18247_426+18248delinsAC
ENST00000596678.2:c.202+317_202+318delinsAC ENSP00000470064.2:n.202+317_202+318delinsAC
ENST00000613719.1:n.987+537_987+538delinsAC
NM_004278.3:c.660+317_660+318delinsAC NP_004269.1:n.660+317_660+318delinsAC
XR_243571.2:n.1658+317_1658+318delinsAC
XM_017025349.1:c.*824+317_*824+318delinsAC XP_016880838.1:n.*824+317_*824+318delinsAC
XM_017025350.1:c.*824+317_*824+318delinsAC XP_016880839.1:n.*824+317_*824+318delinsAC
XM_017025352.1:c.660+317_660+318delinsAC XP_016880841.1:n.660+317_660+318delinsAC
XM_017025353.1:c.660+317_660+318delinsAC XP_016880842.1:n.660+317_660+318delinsAC
XM_017025354.1:c.628+317_628+318delinsAC XP_016880843.1:n.628+317_628+318delinsAC
XM_017025355.1:c.628+317_628+318delinsAC XP_016880844.1:n.628+317_628+318delinsAC
XM_017025356.1:c.*1137+317_*1137+318delinsAC XP_016880845.1:n.*1137+317_*1137+318delinsAC
NM_004278.4:c.660+317_660+318delinsAC MANE Select NP_004269.1:n.660+317_660+318delinsAC