Canonical Allele Identifier: CA2808611479
Gene: PIGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16317973_16317982del , CM000679.2:g.16317973_16317982del GRCh38
NC_000017.10:g.16221287_16221296del , CM000679.1:g.16221287_16221296del GRCh37
NC_000017.9:g.16162012_16162021del NCBI36
NG_032651.1:g.105779_105788del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225609.10:c.660+65_660+74del MANE Select ENSP00000225609.5:n.660+65_660+74del
ENST00000225609.9:c.660+65_660+74del ENSP00000225609.5:n.660+65_660+74del
ENST00000395844.8:c.628+65_628+74del ENSP00000379185.3:n.628+65_628+74del
ENST00000477745.5:n.658+65_658+74del
ENST00000488375.2:n.518+65_518+74del
ENST00000581006.5:c.426+17995_426+18004del ENSP00000462432.1:n.426+17995_426+18004del
ENST00000596678.2:c.202+65_202+74del ENSP00000470064.2:n.202+65_202+74del
ENST00000613719.1:n.987+285_987+294del
NM_004278.3:c.660+65_660+74del NP_004269.1:n.660+65_660+74del
XR_243571.2:n.1658+65_1658+74del
XM_017025349.1:c.*824+65_*824+74del XP_016880838.1:n.*824+65_*824+74del
XM_017025350.1:c.*824+65_*824+74del XP_016880839.1:n.*824+65_*824+74del
XM_017025352.1:c.660+65_660+74del XP_016880841.1:n.660+65_660+74del
XM_017025353.1:c.660+65_660+74del XP_016880842.1:n.660+65_660+74del
XM_017025354.1:c.628+65_628+74del XP_016880843.1:n.628+65_628+74del
XM_017025355.1:c.628+65_628+74del XP_016880844.1:n.628+65_628+74del
XM_017025356.1:c.*1137+65_*1137+74del XP_016880845.1:n.*1137+65_*1137+74del
NM_004278.4:c.660+65_660+74del MANE Select NP_004269.1:n.660+65_660+74del