Allele Registry

Canonical Allele Identifier: CA156221

Gene: PIGA HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrX:g.15331855dupA

GRCh37 chrX:g.15349977dupA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000119284

ClinVar Variation:

132815

dbSNP:

587777397

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331857dup , CM000685.2:g.15331857dup	GRCh38
NC_000023.10:g.15349979dup , CM000685.1:g.15349979dup	GRCh37
NC_000023.9:g.15259900dup	NCBI36
NG_009786.1:g.8684dup , LRG_160:g.8684dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.76dup MANE Select	ENSP00000369820.3:p.Tyr26LeufsTer4
ENST00000637296.1:c.-315+19dup	ENSP00000490545.1:n.-315+19dup
ENST00000637626.1:c.76dup	ENSP00000489928.1:p.Tyr26LeufsTer4
ENST00000638131.1:c.76dup	ENSP00000490483.1:p.Tyr26LeufsTer4
ENST00000333590.5:c.76dup	ENSP00000369820.3:p.Tyr26LeufsTer4
ENST00000474662.2:n.142+19dup
ENST00000482148.6:c.76dup	ENSP00000489528.1:p.Tyr26LeufsTer4
ENST00000542278.6:c.76dup	ENSP00000442653.2:p.Tyr26LeufsTer4
ENST00000634582.1:c.13+3646dup	ENSP00000489540.1:n.13+3646dup
ENST00000634640.1:c.-231+19dup	ENSP00000489083.1:n.-231+19dup
ENST00000635045.1:n.161dup
ENST00000635543.1:c.76dup	ENSP00000489205.1:p.Tyr26LeufsTer4
ENST00000635598.1:c.76dup	ENSP00000489207.1:p.Tyr26LeufsTer4
NM_002641.3:c.76dup , LRG_160t1:c.76dup	NP_002632.1:p.Tyr26LeufsTer4
NM_020473.3:c.13+3646dup	NP_065206.3:n.13+3646dup
NR_033835.1:n.192dup
NR_033836.1:n.173+19dup
NM_002641.4:c.76dup MANE Select	NP_002632.1:p.Tyr26LeufsTer4

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