Allele Registry

Canonical Allele Identifier: CA156226

Gene: PIGA HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrX:g.15324821_15324823del

GRCh37 chrX:g.15342943_15342945del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000478249

RCV002221150

RCV002281561

ClinVar Variation:

132818

dbSNP:

587777399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15324821_15324823del , CM000685.2:g.15324821_15324823del	GRCh38
NC_000023.10:g.15342943_15342945del , CM000685.1:g.15342943_15342945del	GRCh37
NC_000023.9:g.15252864_15252866del	NCBI36
NG_009786.1:g.15716_15718del , LRG_160:g.15716_15718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.1030_1032del MANE Select	ENSP00000369820.3:p.Leu344del
ENST00000637296.1:c.85_87del	ENSP00000490545.1:p.Leu29del
ENST00000637626.1:c.511_513del	ENSP00000489928.1:n.511_513del
ENST00000638131.1:c.291_293del	ENSP00000490483.1:n.291_293del
ENST00000333590.5:c.1030_1032del	ENSP00000369820.3:p.Leu344del
ENST00000463173.1:n.302_304del
ENST00000475746.1:c.81+197_81+199del	ENSP00000488970.1:n.81+197_81+199del
ENST00000482148.6:c.523_525del	ENSP00000489528.1:p.Leu175del
ENST00000542278.6:c.1030_1032del	ENSP00000442653.2:p.Leu344del
ENST00000634286.1:c.643_645del	ENSP00000489491.1:n.643_645del
ENST00000634582.1:c.328_330del	ENSP00000489540.1:p.Leu110del
ENST00000634640.1:c.85_87del	ENSP00000489083.1:p.Leu29del
ENST00000635045.1:n.1263_1265del
ENST00000635480.1:n.652_654del
ENST00000635598.1:c.299_301del	ENSP00000489207.1:n.299_301del
ENST00000635631.1:n.371_373del
NM_002641.3:c.1030_1032del , LRG_160t1:c.1030_1032del	NP_002632.1:p.Leu344del
NM_020473.3:c.328_330del	NP_065206.3:p.Leu110del
NR_033835.1:n.772_774del
NR_033836.1:n.488_490del
XM_011545539.1:c.337_339del	XP_011543841.1:p.Leu113del
XM_011545539.2:c.337_339del	XP_011543841.1:p.Leu113del
NM_002641.4:c.1030_1032del MANE Select	NP_002632.1:p.Leu344del

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