Canonical Allele Identifier: CA2636279946

Gene: PIGL

Linked Data

• gnomAD v4: 17-16299940-GTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16299945_16299947del , CM000679.2:g.16299945_16299947del	GRCh38
NC_000017.10:g.16203259_16203261del , CM000679.1:g.16203259_16203261del	GRCh37
NC_000017.9:g.16143984_16143986del	NCBI36
NG_032651.1:g.87751_87753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.393_395del MANE Select	ENSP00000225609.5:p.Leu132del
ENST00000225609.9:c.393_395del	ENSP00000225609.5:p.Leu132del
ENST00000395844.8:c.393_395del	ENSP00000379185.3:p.Leu132del
ENST00000477745.5:n.391_393del
ENST00000498772.6:n.410_412del
ENST00000581006.5:c.393_395del	ENSP00000462432.1:p.Leu132del
ENST00000584797.5:c.393_395del	ENSP00000463540.1:p.Leu132del
ENST00000585034.5:c.293_295del	ENSP00000464424.1:p.Ser98del
ENST00000607144.4:n.429_431del
NM_004278.3:c.393_395del	NP_004269.1:p.Leu132del
XM_011524080.1:c.393_395del	XP_011522382.1:p.Leu132del
XR_243571.2:n.411_413del
XR_429826.2:n.411_413del
XM_011524080.2:c.393_395del	XP_011522382.1:p.Leu132del
XM_017025349.1:c.393_395del	XP_016880838.1:p.Leu132del
XM_017025350.1:c.393_395del	XP_016880839.1:p.Leu132del
XM_017025351.1:c.393_395del	XP_016880840.1:p.Leu132del
XM_017025352.1:c.393_395del	XP_016880841.1:p.Leu132del
XM_017025353.1:c.393_395del	XP_016880842.1:p.Leu132del
XM_017025354.1:c.393_395del	XP_016880843.1:p.Leu132del
XM_017025355.1:c.393_395del	XP_016880844.1:p.Leu132del
XM_017025356.1:c.393_395del	XP_016880845.1:p.Leu132del
NM_004278.4:c.393_395del MANE Select	NP_004269.1:p.Leu132del