Canonical Allele Identifier: CA624972757

Gene: PIGL

Linked Data

• dbSNP Id: rs1470883382
• gnomAD v2: 17-16203207-TCCCAGATGA-T
• gnomAD v3: 17-16299893-TCCCAGATGA-T
• gnomAD v4: 17-16299893-TCCCAGATGA-T
• MyVariant Identifiers: chr17:g.16203208_16203216del (hg19) ; chr17:g.16299894_16299902del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16299899_16299907del , CM000679.2:g.16299899_16299907del	GRCh38
NC_000017.10:g.16203213_16203221del , CM000679.1:g.16203213_16203221del	GRCh37
NC_000017.9:g.16143938_16143946del	NCBI36
NG_032651.1:g.87705_87713del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225609.10:c.347_355del MANE Select	ENSP00000225609.5:p.Asp116_Pro118del
ENST00000225609.9:c.347_355del	ENSP00000225609.5:p.Asp116_Pro118del
ENST00000395844.8:c.347_355del	ENSP00000379185.3:p.Asp116_Pro118del
ENST00000477745.5:n.345_353del
ENST00000498772.6:n.364_372del
ENST00000581006.5:c.347_355del	ENSP00000462432.1:p.Asp116_Pro118del
ENST00000584797.5:c.347_355del	ENSP00000463540.1:p.Asp116_Pro118del
ENST00000585034.5:c.247_255del	ENSP00000464424.1:p.Met83_Gln85del
ENST00000607144.4:n.383_391del
NM_004278.3:c.347_355del	NP_004269.1:p.Asp116_Pro118del
XM_011524080.1:c.347_355del	XP_011522382.1:p.Asp116_Pro118del
XR_243571.2:n.365_373del
XR_429826.2:n.365_373del
XM_011524080.2:c.347_355del	XP_011522382.1:p.Asp116_Pro118del
XM_017025349.1:c.347_355del	XP_016880838.1:p.Asp116_Pro118del
XM_017025350.1:c.347_355del	XP_016880839.1:p.Asp116_Pro118del
XM_017025351.1:c.347_355del	XP_016880840.1:p.Asp116_Pro118del
XM_017025352.1:c.347_355del	XP_016880841.1:p.Asp116_Pro118del
XM_017025353.1:c.347_355del	XP_016880842.1:p.Asp116_Pro118del
XM_017025354.1:c.347_355del	XP_016880843.1:p.Asp116_Pro118del
XM_017025355.1:c.347_355del	XP_016880844.1:p.Asp116_Pro118del
XM_017025356.1:c.347_355del	XP_016880845.1:p.Asp116_Pro118del
NM_004278.4:c.347_355del MANE Select	NP_004269.1:p.Asp116_Pro118del