Canonical Allele Identifier: CA636175086

Gene: PIGT

Linked Data

• dbSNP Id: rs1156536252
• gnomAD v2: 20-44052880-A-AG
• gnomAD v4: 20-45424240-A-AG
• MyVariant Identifiers: chr20:g.44052880_44052881insG (hg19) ; chr20:g.45424240_45424241insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424242dup , CM000682.2:g.45424242dup	GRCh38
NC_000020.10:g.44052882dup , CM000682.1:g.44052882dup	GRCh37
NC_000020.9:g.43486296dup	NCBI36
NG_047154.1:g.13176dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424705.3:c.1261dup	ENSP00000491856.2:p.Asp421GlyfsTer27
ENST00000638691.2:c.1261dup	ENSP00000492094.2:p.Asp421GlyfsTer27
ENST00000639292.2:c.1342dup	ENSP00000491678.2:p.Asp448GlyfsTer27
ENST00000640549.2:c.1261dup	ENSP00000492043.2:p.Asp421GlyfsTer27
ENST00000687237.1:n.651dup
ENST00000689203.1:c.1261dup	ENSP00000508682.1:p.Asp421GlyfsTer27
ENST00000690879.1:n.737dup
ENST00000692236.1:c.1261dup	ENSP00000509421.1:p.Asp421GlyfsTer27
ENST00000279035.14:c.955dup	ENSP00000279035.8:p.Asp319GlyfsTer27
ENST00000279036.12:c.1261dup MANE Select	ENSP00000279036.6:p.Asp421GlyfsTer27
ENST00000432270.2:c.754dup	ENSP00000408354.2:p.Asp252GlyfsTer?
ENST00000543458.7:c.1093dup	ENSP00000441577.1:p.Asp365GlyfsTer27
ENST00000545755.3:c.679dup	ENSP00000443963.3:p.Asp227GlyfsTer27
ENST00000638241.1:n.1139dup
ENST00000638246.1:c.*761dup	ENSP00000492883.1:n.*761dup
ENST00000638277.1:c.195dup
ENST00000638383.1:c.*610dup	ENSP00000492295.1:n.*610dup
ENST00000638387.1:c.*305dup	ENSP00000492873.1:n.*305dup
ENST00000638415.1:c.798dup
ENST00000638445.1:c.*645dup	ENSP00000491297.1:n.*645dup
ENST00000638537.1:n.1050dup
ENST00000638594.1:c.1261dup	ENSP00000491697.1:p.Asp421GlyfsTer27
ENST00000638612.1:c.1261dup	ENSP00000491458.1:p.Asp421GlyfsTer27
ENST00000638671.1:c.*645dup	ENSP00000492875.1:n.*645dup
ENST00000638689.1:n.3468dup
ENST00000638691.1:c.18dup
ENST00000638710.1:c.1467dup	ENSP00000491406.1:n.1467dup
ENST00000638714.1:c.*645dup	ENSP00000491194.1:n.*645dup
ENST00000638745.1:c.*645dup	ENSP00000491744.1:n.*645dup
ENST00000638927.1:c.403dup	ENSP00000492335.1:p.Asp135GlyfsTer27
ENST00000638938.1:c.*717dup	ENSP00000491171.1:n.*717dup
ENST00000638962.1:n.1221dup
ENST00000638978.1:c.1211dup	ENSP00000492743.1:p.Pro405ThrfsTer11
ENST00000639250.1:n.2511dup
ENST00000639292.1:c.1121dup
ENST00000639382.1:c.1120dup	ENSP00000491534.1:p.Asp374GlyfsTer?
ENST00000639417.1:c.*305dup	ENSP00000491058.1:n.*305dup
ENST00000639499.1:c.1261dup	ENSP00000491170.1:p.Asp421GlyfsTer27
ENST00000639664.1:n.988dup
ENST00000639783.1:c.*563dup	ENSP00000491772.1:n.*563dup
ENST00000639872.1:n.830dup
ENST00000639932.1:c.*563dup	ENSP00000491600.1:n.*563dup
ENST00000639984.1:c.*563dup	ENSP00000492727.1:n.*563dup
ENST00000640107.1:c.*521dup	ENSP00000491118.1:n.*521dup
ENST00000640108.1:c.*950dup	ENSP00000492007.1:n.*950dup
ENST00000640175.1:c.*563dup	ENSP00000492418.1:n.*563dup
ENST00000640194.1:c.*580dup	ENSP00000492279.1:n.*580dup
ENST00000640210.1:c.850dup	ENSP00000491164.1:p.Asp284GlyfsTer27
ENST00000640253.1:n.475dup
ENST00000640272.1:c.*645dup	ENSP00000492270.1:n.*645dup
ENST00000640324.1:c.1267dup	ENSP00000491074.1:p.Asp423GlyfsTer27
ENST00000640364.1:n.1984dup
ENST00000640542.1:c.1060dup	ENSP00000492174.1:p.Asp354GlyfsTer27
ENST00000640549.1:c.751dup	ENSP00000492043.1:p.Asp251GlyfsTer27
ENST00000640585.1:c.*918dup	ENSP00000491308.1:n.*918dup
ENST00000640638.1:n.429dup
ENST00000640666.1:c.1261dup	ENSP00000491072.1:p.Asp421GlyfsTer27
ENST00000640692.1:c.*177dup	ENSP00000492370.1:n.*177dup
ENST00000640940.1:n.923dup
ENST00000640986.1:c.*378dup	ENSP00000491886.1:n.*378dup
ENST00000640996.1:c.*938dup	ENSP00000492464.1:n.*938dup
ENST00000279035.13:c.955dup	ENSP00000279035.8:p.Asp319GlyfsTer27
ENST00000279036.10:c.1261dup	ENSP00000279036.6:p.Asp421GlyfsTer27
ENST00000372689.9:c.1060dup	ENSP00000361774.4:p.Asp354GlyfsTer27
ENST00000455050.2:c.*792dup	ENSP00000407574.2:n.*792dup
ENST00000543458.6:c.1093dup	ENSP00000441577.1:p.Asp365GlyfsTer27
ENST00000545755.2:c.290dup
NM_001184728.2:c.1093dup	NP_001171657.1:p.Asp365GlyfsTer27
NM_001184729.2:c.1060dup	NP_001171658.1:p.Asp354GlyfsTer27
NM_001184730.2:c.955dup	NP_001171659.1:p.Asp319GlyfsTer27
NM_015937.5:c.1261dup	NP_057021.2:p.Asp421GlyfsTer27
NR_047691.1:n.1311dup
NR_047692.1:n.1254dup
NR_047693.1:n.1250dup
NR_047694.1:n.1173dup
NR_047695.1:n.944dup
XM_005260430.2:c.754dup	XP_005260487.1:p.Asp252GlyfsTer27
XM_005260432.1:c.475dup	XP_005260489.1:p.Asp159GlyfsTer27
XM_005260432.3:c.475dup	XP_005260489.1:p.Asp159GlyfsTer27
XR_001754286.2:n.1297dup
XR_001754287.2:n.1096dup
NM_015937.6:c.1261dup MANE Select	NP_057021.2:p.Asp421GlyfsTer27
NM_001184728.3:c.1093dup	NP_001171657.1:p.Asp365GlyfsTer27
NM_001184729.3:c.1060dup	NP_001171658.1:p.Asp354GlyfsTer27
NM_001184730.3:c.955dup	NP_001171659.1:p.Asp319GlyfsTer27
NR_047691.2:n.1237dup
NR_047692.2:n.1180dup
NR_047693.2:n.1176dup
NR_047694.2:n.1099dup
NR_047695.2:n.870dup