Canonical Allele Identifier: CA2636282179
Gene: PIGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16317972_16317973del , CM000679.2:g.16317972_16317973del GRCh38
NC_000017.10:g.16221286_16221287del , CM000679.1:g.16221286_16221287del GRCh37
NC_000017.9:g.16162011_16162012del NCBI36
NG_032651.1:g.105778_105779del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.660+64_660+65del MANE Select ENSP00000225609.5:n.660+64_660+65del
ENST00000225609.9:c.660+64_660+65del ENSP00000225609.5:n.660+64_660+65del
ENST00000395844.8:c.628+64_628+65del ENSP00000379185.3:n.628+64_628+65del
ENST00000477745.5:n.658+64_658+65del
ENST00000488375.2:n.518+64_518+65del
ENST00000581006.5:c.426+17994_426+17995del ENSP00000462432.1:n.426+17994_426+17995del
ENST00000596678.2:c.202+64_202+65del ENSP00000470064.2:n.202+64_202+65del
ENST00000613719.1:n.987+284_987+285del
NM_004278.3:c.660+64_660+65del NP_004269.1:n.660+64_660+65del
XR_243571.2:n.1658+64_1658+65del
XM_017025349.1:c.*824+64_*824+65del XP_016880838.1:n.*824+64_*824+65del
XM_017025350.1:c.*824+64_*824+65del XP_016880839.1:n.*824+64_*824+65del
XM_017025352.1:c.660+64_660+65del XP_016880841.1:n.660+64_660+65del
XM_017025353.1:c.660+64_660+65del XP_016880842.1:n.660+64_660+65del
XM_017025354.1:c.628+64_628+65del XP_016880843.1:n.628+64_628+65del
XM_017025355.1:c.628+64_628+65del XP_016880844.1:n.628+64_628+65del
XM_017025356.1:c.*1137+64_*1137+65del XP_016880845.1:n.*1137+64_*1137+65del
NM_004278.4:c.660+64_660+65del MANE Select NP_004269.1:n.660+64_660+65del