Canonical Allele Identifier: CA2250001123
Gene: PIGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16318093_16318094delinsCT , CM000679.2:g.16318093_16318094delinsCT GRCh38
NC_000017.10:g.16221407_16221408delinsCT , CM000679.1:g.16221407_16221408delinsCT GRCh37
NC_000017.9:g.16162132_16162133delinsCT NCBI36
NG_032651.1:g.105899_105900delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.660+185_660+186delinsCT MANE Select ENSP00000225609.5:n.660+185_660+186delinsCT
ENST00000225609.9:c.660+185_660+186delinsCT ENSP00000225609.5:n.660+185_660+186delinsCT
ENST00000395844.8:c.628+185_628+186delinsCT ENSP00000379185.3:n.628+185_628+186delinsCT
ENST00000477745.5:n.658+185_658+186delinsCT
ENST00000488375.2:n.518+185_518+186delinsCT
ENST00000581006.5:c.426+18115_426+18116delinsCT ENSP00000462432.1:n.426+18115_426+18116delinsCT
ENST00000596678.2:c.202+185_202+186delinsCT ENSP00000470064.2:n.202+185_202+186delinsCT
ENST00000613719.1:n.987+405_987+406delinsCT
NM_004278.3:c.660+185_660+186delinsCT NP_004269.1:n.660+185_660+186delinsCT
XR_243571.2:n.1658+185_1658+186delinsCT
XM_017025349.1:c.*824+185_*824+186delinsCT XP_016880838.1:n.*824+185_*824+186delinsCT
XM_017025350.1:c.*824+185_*824+186delinsCT XP_016880839.1:n.*824+185_*824+186delinsCT
XM_017025352.1:c.660+185_660+186delinsCT XP_016880841.1:n.660+185_660+186delinsCT
XM_017025353.1:c.660+185_660+186delinsCT XP_016880842.1:n.660+185_660+186delinsCT
XM_017025354.1:c.628+185_628+186delinsCT XP_016880843.1:n.628+185_628+186delinsCT
XM_017025355.1:c.628+185_628+186delinsCT XP_016880844.1:n.628+185_628+186delinsCT
XM_017025356.1:c.*1137+185_*1137+186delinsCT XP_016880845.1:n.*1137+185_*1137+186delinsCT
NM_004278.4:c.660+185_660+186delinsCT MANE Select NP_004269.1:n.660+185_660+186delinsCT