Canonical Allele Identifier: CA2808611477
Gene: PIGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16317957_16317958insT , CM000679.2:g.16317957_16317958insT GRCh38
NC_000017.10:g.16221271_16221272insT , CM000679.1:g.16221271_16221272insT GRCh37
NC_000017.9:g.16161996_16161997insT NCBI36
NG_032651.1:g.105763_105764insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.660+49_660+50insT MANE Select ENSP00000225609.5:n.660+49_660+50insT
ENST00000225609.9:c.660+49_660+50insT ENSP00000225609.5:n.660+49_660+50insT
ENST00000395844.8:c.628+49_628+50insT ENSP00000379185.3:n.628+49_628+50insT
ENST00000477745.5:n.658+49_658+50insT
ENST00000488375.2:n.518+49_518+50insT
ENST00000581006.5:c.426+17979_426+17980insT ENSP00000462432.1:n.426+17979_426+17980insT
ENST00000596678.2:c.202+49_202+50insT ENSP00000470064.2:n.202+49_202+50insT
ENST00000613719.1:n.987+269_987+270insT
NM_004278.3:c.660+49_660+50insT NP_004269.1:n.660+49_660+50insT
XR_243571.2:n.1658+49_1658+50insT
XM_017025349.1:c.*824+49_*824+50insT XP_016880838.1:n.*824+49_*824+50insT
XM_017025350.1:c.*824+49_*824+50insT XP_016880839.1:n.*824+49_*824+50insT
XM_017025352.1:c.660+49_660+50insT XP_016880841.1:n.660+49_660+50insT
XM_017025353.1:c.660+49_660+50insT XP_016880842.1:n.660+49_660+50insT
XM_017025354.1:c.628+49_628+50insT XP_016880843.1:n.628+49_628+50insT
XM_017025355.1:c.628+49_628+50insT XP_016880844.1:n.628+49_628+50insT
XM_017025356.1:c.*1137+49_*1137+50insT XP_016880845.1:n.*1137+49_*1137+50insT
NM_004278.4:c.660+49_660+50insT MANE Select NP_004269.1:n.660+49_660+50insT