Canonical Allele Identifier: CA2653053730

Gene: PIGT

Linked Data

• gnomAD v4: 20-45424327-CGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424332_45424334del , CM000682.2:g.45424332_45424334del	GRCh38
NC_000020.10:g.44052972_44052974del , CM000682.1:g.44052972_44052974del	GRCh37
NC_000020.9:g.43486386_43486388del	NCBI36
NG_047154.1:g.13266_13268del

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1351_1353del	ENSP00000491856.2:p.Leu451del
ENST00000638691.2:c.1351_1353del	ENSP00000492094.2:p.Leu451del
ENST00000639292.2:c.1432_1434del	ENSP00000491678.2:p.Leu478del
ENST00000640549.2:c.1351_1353del	ENSP00000492043.2:p.Leu451del
ENST00000687237.1:n.741_743del
ENST00000689203.1:c.1351_1353del	ENSP00000508682.1:p.Leu451del
ENST00000690879.1:n.827_829del
ENST00000692236.1:c.1351_1353del	ENSP00000509421.1:p.Leu451del
ENST00000279035.14:c.1045_1047del	ENSP00000279035.8:p.Leu349del
ENST00000279036.12:c.1351_1353del MANE Select	ENSP00000279036.6:p.Leu451del
ENST00000424705.2:c.87_89del
ENST00000543458.7:c.1183_1185del	ENSP00000441577.1:p.Leu395del
ENST00000545755.3:c.769_771del	ENSP00000443963.3:p.Leu257del
ENST00000638241.1:n.1229_1231del
ENST00000638246.1:c.*851_*853del	ENSP00000492883.1:n.*851_*853del
ENST00000638277.1:c.285_287del
ENST00000638383.1:c.*700_*702del	ENSP00000492295.1:n.*700_*702del
ENST00000638387.1:c.*395_*397del	ENSP00000492873.1:n.*395_*397del
ENST00000638415.1:c.888_890del
ENST00000638445.1:c.*735_*737del	ENSP00000491297.1:n.*735_*737del
ENST00000638537.1:n.1140_1142del
ENST00000638594.1:c.1351_1353del	ENSP00000491697.1:p.Leu451del
ENST00000638612.1:c.1351_1353del	ENSP00000491458.1:p.Leu451del
ENST00000638671.1:c.*735_*737del	ENSP00000492875.1:n.*735_*737del
ENST00000638689.1:n.3558_3560del
ENST00000638691.1:c.108_110del
ENST00000638710.1:c.1557_1559del	ENSP00000491406.1:n.1557_1559del
ENST00000638714.1:c.*735_*737del	ENSP00000491194.1:n.*735_*737del
ENST00000638745.1:c.*735_*737del	ENSP00000491744.1:n.*735_*737del
ENST00000638927.1:c.493_495del	ENSP00000492335.1:p.Leu165del
ENST00000638938.1:c.*807_*809del	ENSP00000491171.1:n.*807_*809del
ENST00000638962.1:n.1311_1313del
ENST00000638978.1:c.*11_*13del	ENSP00000492743.1:n.*11_*13del
ENST00000639250.1:n.2601_2603del
ENST00000639292.1:c.1211_1213del
ENST00000639499.1:c.1351_1353del	ENSP00000491170.1:p.Leu451del
ENST00000639664.1:n.1078_1080del
ENST00000639783.1:c.*653_*655del	ENSP00000491772.1:n.*653_*655del
ENST00000639872.1:n.920_922del
ENST00000639932.1:c.*653_*655del	ENSP00000491600.1:n.*653_*655del
ENST00000639984.1:c.*653_*655del	ENSP00000492727.1:n.*653_*655del
ENST00000640107.1:c.*611_*613del	ENSP00000491118.1:n.*611_*613del
ENST00000640108.1:c.*1040_*1042del	ENSP00000492007.1:n.*1040_*1042del
ENST00000640123.1:c.63_65del
ENST00000640175.1:c.*653_*655del	ENSP00000492418.1:n.*653_*655del
ENST00000640194.1:c.*670_*672del	ENSP00000492279.1:n.*670_*672del
ENST00000640210.1:c.940_942del	ENSP00000491164.1:p.Leu314del
ENST00000640253.1:n.565_567del
ENST00000640272.1:c.*735_*737del	ENSP00000492270.1:n.*735_*737del
ENST00000640324.1:c.1357_1359del	ENSP00000491074.1:p.Leu453del
ENST00000640364.1:n.2074_2076del
ENST00000640542.1:c.1150_1152del	ENSP00000492174.1:p.Leu384del
ENST00000640549.1:c.841_843del	ENSP00000492043.1:p.Leu281del
ENST00000640585.1:c.*1008_*1010del	ENSP00000491308.1:n.*1008_*1010del
ENST00000640638.1:n.519_521del
ENST00000640666.1:c.1351_1353del	ENSP00000491072.1:p.Leu451del
ENST00000640692.1:c.*267_*269del	ENSP00000492370.1:n.*267_*269del
ENST00000640940.1:n.1013_1015del
ENST00000640986.1:c.*468_*470del	ENSP00000491886.1:n.*468_*470del
ENST00000640996.1:c.*1028_*1030del	ENSP00000492464.1:n.*1028_*1030del
ENST00000279035.13:c.1045_1047del	ENSP00000279035.8:p.Leu349del
ENST00000279036.10:c.1351_1353del	ENSP00000279036.6:p.Leu451del
ENST00000372689.9:c.1150_1152del	ENSP00000361774.4:p.Leu384del
ENST00000455050.2:c.*882_*884del	ENSP00000407574.2:n.*882_*884del
ENST00000543458.6:c.1183_1185del	ENSP00000441577.1:p.Leu395del
ENST00000545755.2:c.380_382del
NM_001184728.2:c.1183_1185del	NP_001171657.1:p.Leu395del
NM_001184729.2:c.1150_1152del	NP_001171658.1:p.Leu384del
NM_001184730.2:c.1045_1047del	NP_001171659.1:p.Leu349del
NM_015937.5:c.1351_1353del	NP_057021.2:p.Leu451del
NR_047691.1:n.1401_1403del
NR_047692.1:n.1344_1346del
NR_047693.1:n.1340_1342del
NR_047694.1:n.1263_1265del
NR_047695.1:n.1034_1036del
XM_005260430.2:c.844_846del	XP_005260487.1:p.Leu282del
XM_005260432.1:c.565_567del	XP_005260489.1:p.Leu189del
XM_005260432.3:c.565_567del	XP_005260489.1:p.Leu189del
XR_001754286.2:n.1387_1389del
XR_001754287.2:n.1186_1188del
NM_015937.6:c.1351_1353del MANE Select	NP_057021.2:p.Leu451del
NM_001184728.3:c.1183_1185del	NP_001171657.1:p.Leu395del
NM_001184729.3:c.1150_1152del	NP_001171658.1:p.Leu384del
NM_001184730.3:c.1045_1047del	NP_001171659.1:p.Leu349del
NR_047691.2:n.1327_1329del
NR_047692.2:n.1270_1272del
NR_047693.2:n.1266_1268del
NR_047694.2:n.1189_1191del
NR_047695.2:n.960_962del