Canonical Allele Identifier: CA726518979

Gene: PIGL

Linked Data

• dbSNP Id: rs1290094240
• gnomAD v3: 17-16318117-ATATATGC-A
• gnomAD v4: 17-16318117-ATATATGC-A
• MyVariant Identifiers: chr17:g.16221432_16221438del (hg19) ; chr17:g.16318118_16318124del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16318119_16318125del , CM000679.2:g.16318119_16318125del	GRCh38
NC_000017.10:g.16221433_16221439del , CM000679.1:g.16221433_16221439del	GRCh37
NC_000017.9:g.16162158_16162164del	NCBI36
NG_032651.1:g.105925_105931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225609.10:c.660+211_660+217del MANE Select	ENSP00000225609.5:n.660+211_660+217del
ENST00000225609.9:c.660+211_660+217del	ENSP00000225609.5:n.660+211_660+217del
ENST00000395844.8:c.628+211_628+217del	ENSP00000379185.3:n.628+211_628+217del
ENST00000477745.5:n.658+211_658+217del
ENST00000488375.2:n.518+211_518+217del
ENST00000581006.5:c.426+18141_426+18147del	ENSP00000462432.1:n.426+18141_426+18147del
ENST00000596678.2:c.202+211_202+217del	ENSP00000470064.2:n.202+211_202+217del
ENST00000613719.1:n.987+431_987+437del
NM_004278.3:c.660+211_660+217del	NP_004269.1:n.660+211_660+217del
XR_243571.2:n.1658+211_1658+217del
XM_017025349.1:c.*824+211_*824+217del	XP_016880838.1:n.*824+211_*824+217del
XM_017025350.1:c.*824+211_*824+217del	XP_016880839.1:n.*824+211_*824+217del
XM_017025352.1:c.660+211_660+217del	XP_016880841.1:n.660+211_660+217del
XM_017025353.1:c.660+211_660+217del	XP_016880842.1:n.660+211_660+217del
XM_017025354.1:c.628+211_628+217del	XP_016880843.1:n.628+211_628+217del
XM_017025355.1:c.628+211_628+217del	XP_016880844.1:n.628+211_628+217del
XM_017025356.1:c.*1137+211_*1137+217del	XP_016880845.1:n.*1137+211_*1137+217del
NM_004278.4:c.660+211_660+217del MANE Select	NP_004269.1:n.660+211_660+217del