Allele Registry

Canonical Allele Identifier: CA120845

Gene: PIGA HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrX:g.15324738del

GRCh37 chrX:g.15342860del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001799597

ClinVar Variation:

9960

dbSNP:

587776725

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15324739del , CM000685.2:g.15324739del	GRCh38
NC_000023.10:g.15342861del , CM000685.1:g.15342861del	GRCh37
NC_000023.9:g.15252782del	NCBI36
NG_009786.1:g.15801del , LRG_160:g.15801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.1115del MANE Select	ENSP00000369820.3:p.Pro372GlnfsTer9
ENST00000637296.1:c.170del	ENSP00000490545.1:p.Pro57GlnfsTer9
ENST00000637626.1:c.*596del	ENSP00000489928.1:n.*596del
ENST00000638131.1:c.*376del	ENSP00000490483.1:n.*376del
ENST00000333590.5:c.1115del	ENSP00000369820.3:p.Pro372GlnfsTer9
ENST00000463173.1:n.387del
ENST00000475746.1:c.81+282del	ENSP00000488970.1:n.81+282del
ENST00000482148.6:c.608del	ENSP00000489528.1:p.Pro203GlnfsTer9
ENST00000542278.6:c.1115del	ENSP00000442653.2:p.Pro372GlnfsTer9
ENST00000634582.1:c.413del	ENSP00000489540.1:p.Pro138GlnfsTer9
ENST00000634640.1:c.170del	ENSP00000489083.1:p.Pro57GlnfsTer9
ENST00000635045.1:n.1348del
ENST00000635480.1:n.737del
ENST00000635598.1:c.*384del	ENSP00000489207.1:n.*384del
ENST00000635631.1:n.456del
NM_002641.3:c.1115del , LRG_160t1:c.1115del	NP_002632.1:p.Pro372GlnfsTer9
NM_020473.3:c.413del	NP_065206.3:p.Pro138GlnfsTer9
NR_033835.1:n.857del
NR_033836.1:n.573del
XM_011545539.1:c.422del	XP_011543841.1:p.Pro141GlnfsTer9
XM_011545539.2:c.422del	XP_011543841.1:p.Pro141GlnfsTer9
NM_002641.4:c.1115del MANE Select	NP_002632.1:p.Pro372GlnfsTer9

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