Allele Registry

Canonical Allele Identifier: CA120851

Gene: PIGA HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrX:g.15321637_15321638del

GRCh37 chrX:g.15339759_15339760del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001799601

ClinVar Variation:

9964

dbSNP:

587776728

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15321638_15321639del , CM000685.2:g.15321638_15321639del	GRCh38
NC_000023.10:g.15339760_15339761del , CM000685.1:g.15339760_15339761del	GRCh37
NC_000023.9:g.15249681_15249682del	NCBI36
NG_009786.1:g.18901_18902del , LRG_160:g.18901_18902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.1323_1324del MANE Select	ENSP00000369820.3:p.Leu442GlufsTer10
ENST00000637296.1:c.378_379del	ENSP00000490545.1:p.Leu127GlufsTer10
ENST00000637626.1:c.804_805del	ENSP00000489928.1:n.804_805del
ENST00000638131.1:c.584_585del	ENSP00000490483.1:n.584_585del
ENST00000333590.5:c.1323_1324del	ENSP00000369820.3:p.Leu442GlufsTer10
ENST00000482148.6:c.816_817del	ENSP00000489528.1:p.Leu273GlufsTer10
ENST00000542278.6:c.1323_1324del	ENSP00000442653.2:p.Leu442GlufsTer10
ENST00000634582.1:c.621_622del	ENSP00000489540.1:p.Leu208GlufsTer10
ENST00000634640.1:c.378_379del	ENSP00000489083.1:p.Leu127GlufsTer10
ENST00000635045.1:n.1556_1557del
ENST00000635598.1:c.592_593del	ENSP00000489207.1:n.592_593del
ENST00000635631.1:n.664_665del
NM_002641.3:c.1323_1324del , LRG_160t1:c.1323_1324del	NP_002632.1:p.Leu442GlufsTer10
NM_020473.3:c.621_622del	NP_065206.3:p.Leu208GlufsTer10
NR_033835.1:n.1065_1066del
NR_033836.1:n.781_782del
XM_011545539.1:c.630_631del	XP_011543841.1:p.Leu211GlufsTer10
XM_011545539.2:c.630_631del	XP_011543841.1:p.Leu211GlufsTer10
NM_002641.4:c.1323_1324del MANE Select	NP_002632.1:p.Leu442GlufsTer10

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