Canonical Allele Identifier: CA120849

Gene: PIGA

Linked Data

• ClinVar Variation Id: 9962
• ClinVar RCV Id: RCV001799599
• dbSNP Id: rs587776726
• MyVariant Identifiers: chrX:g.15349803_15349804insAC (hg19) ; chrX:g.15331681_15331682insAC (hg38)
• PubMed: PMID:8167330

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331681_15331682insAC , CM000685.2:g.15331681_15331682insAC	GRCh38
NC_000023.10:g.15349803_15349804insAC , CM000685.1:g.15349803_15349804insAC	GRCh37
NC_000023.9:g.15259724_15259725insAC	NCBI36
NG_009786.1:g.8857_8858insGT , LRG_160:g.8857_8858insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.249_250insGT MANE Select	ENSP00000369820.3:p.Thr84ValfsTer12
ENST00000637296.1:c.-315+192_-315+193insGT	ENSP00000490545.1:n.-315+192_-315+193insGT
ENST00000637626.1:c.249_250insGT	ENSP00000489928.1:p.Thr84ValfsTer12
ENST00000638131.1:c.111+138_111+139insGT	ENSP00000490483.1:n.111+138_111+139insGT
ENST00000333590.5:c.249_250insGT	ENSP00000369820.3:p.Thr84ValfsTer12
ENST00000474662.2:n.142+192_142+193insGT
ENST00000482148.6:c.249_250insGT	ENSP00000489528.1:p.Thr84ValfsTer12
ENST00000542278.6:c.249_250insGT	ENSP00000442653.2:p.Thr84ValfsTer12
ENST00000634286.1:c.42_43insGT	ENSP00000489491.1:p.Thr15ValfsTer12
ENST00000634582.1:c.13+3819_13+3820insGT	ENSP00000489540.1:n.13+3819_13+3820insGT
ENST00000634640.1:c.-231+192_-231+193insGT	ENSP00000489083.1:n.-231+192_-231+193insGT
ENST00000635045.1:n.334_335insGT
ENST00000635543.1:c.249_250insGT	ENSP00000489205.1:p.Thr84ValfsTer12
ENST00000635598.1:c.249_250insGT	ENSP00000489207.1:p.Thr84ValfsTer12
NM_002641.3:c.249_250insGT , LRG_160t1:c.249_250insGT	NP_002632.1:p.Thr84ValfsTer12
NM_020473.3:c.13+3819_13+3820insGT	NP_065206.3:n.13+3819_13+3820insGT
NR_033835.1:n.365_366insGT
NR_033836.1:n.173+192_173+193insGT
NM_002641.4:c.249_250insGT MANE Select	NP_002632.1:p.Thr84ValfsTer12