Canonical Allele Identifier: CA212926

Gene: PIGA

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15321637_15321638insTTTCAATGATAGAATCTGGAGTCATCCATCTCAA , CM000685.2:g.15321637_15321638insTTTCAATGATAGAATCTGGAGTCATCCATCTCAA	GRCh38
NC_000023.10:g.15339759_15339760insTTTCAATGATAGAATCTGGAGTCATCCATCTCAA , CM000685.1:g.15339759_15339760insTTTCAATGATAGAATCTGGAGTCATCCATCTCAA	GRCh37
NC_000023.9:g.15249680_15249681insTTTCAATGATAGAATCTGGAGTCATCCATCTCAA	NCBI36
NG_009786.1:g.18933_18934insAATTGAGATGGATGACTCCAGATTCTATCATTGA , LRG_160:g.18933_18934insAATTGAGATGGATGACTCCAGATTCTATCATTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA MANE Select	ENSP00000369820.3:p.Asp452GlufsTer12
ENST00000637296.1:c.410_411insAATTGAGATGGATGACTCCAGATTCTATCATTGA	ENSP00000490545.1:p.Asp137GlufsTer12
ENST00000637626.1:c.*836_*837insAATTGAGATGGATGACTCCAGATTCTATCATTGA	ENSP00000489928.1:n.*836_*837insAATTGAGATGGATGACTCCAGATTCTATC...
ENST00000638131.1:c.*616_*617insAATTGAGATGGATGACTCCAGATTCTATCATTGA	ENSP00000490483.1:n.*616_*617insAATTGAGATGGATGACTCCAGATTCTATC...
ENST00000333590.5:c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA	ENSP00000369820.3:p.Asp452GlufsTer12
ENST00000482148.6:c.848_849insAATTGAGATGGATGACTCCAGATTCTATCATTGA	ENSP00000489528.1:p.Asp283GlufsTer12
ENST00000542278.6:c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA	ENSP00000442653.2:p.Asp452GlufsTer12
ENST00000634582.1:c.653_654insAATTGAGATGGATGACTCCAGATTCTATCATTGA	ENSP00000489540.1:p.Asp218GlufsTer12
ENST00000634640.1:c.410_411insAATTGAGATGGATGACTCCAGATTCTATCATTGA	ENSP00000489083.1:p.Asp137GlufsTer12
ENST00000635045.1:n.1588_1589insAATTGAGATGGATGACTCCAGATTCTATCATTGA
ENST00000635598.1:c.*624_*625insAATTGAGATGGATGACTCCAGATTCTATCATTGA	ENSP00000489207.1:n.*624_*625insAATTGAGATGGATGACTCCAGATTCTATC...
ENST00000635631.1:n.696_697insAATTGAGATGGATGACTCCAGATTCTATCATTGA
NM_002641.3:c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA , LRG_160t1:c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA	NP_002632.1:p.Asp452GlufsTer12
NM_020473.3:c.653_654insAATTGAGATGGATGACTCCAGATTCTATCATTGA	NP_065206.3:p.Asp218GlufsTer12
NR_033835.1:n.1097_1098insAATTGAGATGGATGACTCCAGATTCTATCATTGA
NR_033836.1:n.813_814insAATTGAGATGGATGACTCCAGATTCTATCATTGA
XM_011545539.1:c.662_663insAATTGAGATGGATGACTCCAGATTCTATCATTGA	XP_011543841.1:p.Asp221GlufsTer12
XM_011545539.2:c.662_663insAATTGAGATGGATGACTCCAGATTCTATCATTGA	XP_011543841.1:p.Asp221GlufsTer12
NM_002641.4:c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA MANE Select	NP_002632.1:p.Asp452GlufsTer12