Canonical Allele Identifier: CA2636282142

Gene: PIGL

Linked Data

• gnomAD v4: 17-16317932-ACCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317934_16317936del , CM000679.2:g.16317934_16317936del	GRCh38
NC_000017.10:g.16221248_16221250del , CM000679.1:g.16221248_16221250del	GRCh37
NC_000017.9:g.16161973_16161975del	NCBI36
NG_032651.1:g.105740_105742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.660+26_660+28del MANE Select	ENSP00000225609.5:n.660+26_660+28del
ENST00000225609.9:c.660+26_660+28del	ENSP00000225609.5:n.660+26_660+28del
ENST00000395844.8:c.628+26_628+28del	ENSP00000379185.3:n.628+26_628+28del
ENST00000477745.5:n.658+26_658+28del
ENST00000488375.2:n.518+26_518+28del
ENST00000581006.5:c.426+17956_426+17958del	ENSP00000462432.1:n.426+17956_426+17958del
ENST00000596678.2:c.202+26_202+28del	ENSP00000470064.2:n.202+26_202+28del
ENST00000613719.1:n.987+246_987+248del
NM_004278.3:c.660+26_660+28del	NP_004269.1:n.660+26_660+28del
XR_243571.2:n.1658+26_1658+28del
XM_017025349.1:c.*824+26_*824+28del	XP_016880838.1:n.*824+26_*824+28del
XM_017025350.1:c.*824+26_*824+28del	XP_016880839.1:n.*824+26_*824+28del
XM_017025352.1:c.660+26_660+28del	XP_016880841.1:n.660+26_660+28del
XM_017025353.1:c.660+26_660+28del	XP_016880842.1:n.660+26_660+28del
XM_017025354.1:c.628+26_628+28del	XP_016880843.1:n.628+26_628+28del
XM_017025355.1:c.628+26_628+28del	XP_016880844.1:n.628+26_628+28del
XM_017025356.1:c.*1137+26_*1137+28del	XP_016880845.1:n.*1137+26_*1137+28del
NM_004278.4:c.660+26_660+28del MANE Select	NP_004269.1:n.660+26_660+28del