Canonical Allele Identifier: CA2636282117

Gene: PIGL

Linked Data

• gnomAD v4: 17-16317825-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16317827_16317828del , CM000679.2:g.16317827_16317828del	GRCh38
NC_000017.10:g.16221141_16221142del , CM000679.1:g.16221141_16221142del	GRCh37
NC_000017.9:g.16161866_16161867del	NCBI36
NG_032651.1:g.105633_105634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.579_580del MANE Select	ENSP00000225609.5:p.Leu194SerfsTer?
ENST00000225609.9:c.579_580del	ENSP00000225609.5:p.Leu194SerfsTer?
ENST00000395844.8:c.547_548del	ENSP00000379185.3:p.Pro183PhefsTer?
ENST00000477745.5:n.577_578del
ENST00000488375.2:n.437_438del
ENST00000581006.5:c.426+17849_426+17850del	ENSP00000462432.1:n.426+17849_426+17850del
ENST00000596678.2:c.121_122del	ENSP00000470064.2:p.Pro41PhefsTer?
ENST00000613719.1:n.987+139_987+140del
NM_004278.3:c.579_580del	NP_004269.1:p.Leu194SerfsTer?
XR_243571.2:n.1577_1578del
XR_429826.2:n.1024_1025del
XM_017025349.1:c.*743_*744del	XP_016880838.1:n.*743_*744del
XM_017025350.1:c.*743_*744del	XP_016880839.1:n.*743_*744del
XM_017025351.1:c.*190_*191del	XP_016880840.1:n.*190_*191del
XM_017025352.1:c.579_580del	XP_016880841.1:p.Leu194SerfsTer?
XM_017025353.1:c.579_580del	XP_016880842.1:p.Leu194SerfsTer?
XM_017025354.1:c.547_548del	XP_016880843.1:p.Pro183PhefsTer?
XM_017025355.1:c.547_548del	XP_016880844.1:p.Pro183PhefsTer?
XM_017025356.1:c.*1056_*1057del	XP_016880845.1:n.*1056_*1057del
NM_004278.4:c.579_580del MANE Select	NP_004269.1:p.Leu194SerfsTer?