Canonical Allele Identifier: CA2636282141
Gene: PIGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16317935_16317936del , CM000679.2:g.16317935_16317936del GRCh38
NC_000017.10:g.16221249_16221250del , CM000679.1:g.16221249_16221250del GRCh37
NC_000017.9:g.16161974_16161975del NCBI36
NG_032651.1:g.105741_105742del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.660+27_660+28del MANE Select ENSP00000225609.5:n.660+27_660+28del
ENST00000225609.9:c.660+27_660+28del ENSP00000225609.5:n.660+27_660+28del
ENST00000395844.8:c.628+27_628+28del ENSP00000379185.3:n.628+27_628+28del
ENST00000477745.5:n.658+27_658+28del
ENST00000488375.2:n.518+27_518+28del
ENST00000581006.5:c.426+17957_426+17958del ENSP00000462432.1:n.426+17957_426+17958del
ENST00000596678.2:c.202+27_202+28del ENSP00000470064.2:n.202+27_202+28del
ENST00000613719.1:n.987+247_987+248del
NM_004278.3:c.660+27_660+28del NP_004269.1:n.660+27_660+28del
XR_243571.2:n.1658+27_1658+28del
XM_017025349.1:c.*824+27_*824+28del XP_016880838.1:n.*824+27_*824+28del
XM_017025350.1:c.*824+27_*824+28del XP_016880839.1:n.*824+27_*824+28del
XM_017025352.1:c.660+27_660+28del XP_016880841.1:n.660+27_660+28del
XM_017025353.1:c.660+27_660+28del XP_016880842.1:n.660+27_660+28del
XM_017025354.1:c.628+27_628+28del XP_016880843.1:n.628+27_628+28del
XM_017025355.1:c.628+27_628+28del XP_016880844.1:n.628+27_628+28del
XM_017025356.1:c.*1137+27_*1137+28del XP_016880845.1:n.*1137+27_*1137+28del
NM_004278.4:c.660+27_660+28del MANE Select NP_004269.1:n.660+27_660+28del