Canonical Allele Identifier: CA2636282152

Gene: PIGL

Linked Data

• gnomAD v4: 17-16317945-TCCCTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317949_16317954del , CM000679.2:g.16317949_16317954del	GRCh38
NC_000017.10:g.16221263_16221268del , CM000679.1:g.16221263_16221268del	GRCh37
NC_000017.9:g.16161988_16161993del	NCBI36
NG_032651.1:g.105755_105760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.660+41_660+46del MANE Select	ENSP00000225609.5:n.660+41_660+46del
ENST00000225609.9:c.660+41_660+46del	ENSP00000225609.5:n.660+41_660+46del
ENST00000395844.8:c.628+41_628+46del	ENSP00000379185.3:n.628+41_628+46del
ENST00000477745.5:n.658+41_658+46del
ENST00000488375.2:n.518+41_518+46del
ENST00000581006.5:c.426+17971_426+17976del	ENSP00000462432.1:n.426+17971_426+17976del
ENST00000596678.2:c.202+41_202+46del	ENSP00000470064.2:n.202+41_202+46del
ENST00000613719.1:n.987+261_987+266del
NM_004278.3:c.660+41_660+46del	NP_004269.1:n.660+41_660+46del
XR_243571.2:n.1658+41_1658+46del
XM_017025349.1:c.*824+41_*824+46del	XP_016880838.1:n.*824+41_*824+46del
XM_017025350.1:c.*824+41_*824+46del	XP_016880839.1:n.*824+41_*824+46del
XM_017025352.1:c.660+41_660+46del	XP_016880841.1:n.660+41_660+46del
XM_017025353.1:c.660+41_660+46del	XP_016880842.1:n.660+41_660+46del
XM_017025354.1:c.628+41_628+46del	XP_016880843.1:n.628+41_628+46del
XM_017025355.1:c.628+41_628+46del	XP_016880844.1:n.628+41_628+46del
XM_017025356.1:c.*1137+41_*1137+46del	XP_016880845.1:n.*1137+41_*1137+46del
NM_004278.4:c.660+41_660+46del MANE Select	NP_004269.1:n.660+41_660+46del