Canonical Allele Identifier: CA2636282133
Gene: PIGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16317928_16317930del , CM000679.2:g.16317928_16317930del GRCh38
NC_000017.10:g.16221242_16221244del , CM000679.1:g.16221242_16221244del GRCh37
NC_000017.9:g.16161967_16161969del NCBI36
NG_032651.1:g.105734_105736del

Transcript Alleles

HGVS Amino-acid change
ENST00000225609.10:c.660+20_660+22del MANE Select ENSP00000225609.5:n.660+20_660+22del
ENST00000225609.9:c.660+20_660+22del ENSP00000225609.5:n.660+20_660+22del
ENST00000395844.8:c.628+20_628+22del ENSP00000379185.3:n.628+20_628+22del
ENST00000477745.5:n.658+20_658+22del
ENST00000488375.2:n.518+20_518+22del
ENST00000581006.5:c.426+17950_426+17952del ENSP00000462432.1:n.426+17950_426+17952del
ENST00000596678.2:c.202+20_202+22del ENSP00000470064.2:n.202+20_202+22del
ENST00000613719.1:n.987+240_987+242del
NM_004278.3:c.660+20_660+22del NP_004269.1:n.660+20_660+22del
XR_243571.2:n.1658+20_1658+22del
XM_017025349.1:c.*824+20_*824+22del XP_016880838.1:n.*824+20_*824+22del
XM_017025350.1:c.*824+20_*824+22del XP_016880839.1:n.*824+20_*824+22del
XM_017025352.1:c.660+20_660+22del XP_016880841.1:n.660+20_660+22del
XM_017025353.1:c.660+20_660+22del XP_016880842.1:n.660+20_660+22del
XM_017025354.1:c.628+20_628+22del XP_016880843.1:n.628+20_628+22del
XM_017025355.1:c.628+20_628+22del XP_016880844.1:n.628+20_628+22del
XM_017025356.1:c.*1137+20_*1137+22del XP_016880845.1:n.*1137+20_*1137+22del
NM_004278.4:c.660+20_660+22del MANE Select NP_004269.1:n.660+20_660+22del