Canonical Allele Identifier: CA2653053743

Gene: PIGT

Linked Data

• gnomAD v4: 20-45424335-AAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424336_45424338del , CM000682.2:g.45424336_45424338del	GRCh38
NC_000020.10:g.44052976_44052978del , CM000682.1:g.44052976_44052978del	GRCh37
NC_000020.9:g.43486390_43486392del	NCBI36
NG_047154.1:g.13270_13272del

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1355_1357del	ENSP00000491856.2:p.Lys452_Trp453delinsAr...
ENST00000638691.2:c.1355_1357del	ENSP00000492094.2:p.Lys452_Trp453delinsAr...
ENST00000639292.2:c.1436_1438del	ENSP00000491678.2:p.Lys479_Trp480delinsAr...
ENST00000640549.2:c.1355_1357del	ENSP00000492043.2:p.Lys452_Trp453delinsAr...
ENST00000687237.1:n.745_747del
ENST00000689203.1:c.1355_1357del	ENSP00000508682.1:p.Lys452_Trp453delinsAr...
ENST00000690879.1:n.831_833del
ENST00000692236.1:c.1355_1357del	ENSP00000509421.1:p.Lys452_Trp453delinsAr...
ENST00000279035.14:c.1049_1051del	ENSP00000279035.8:p.Lys350_Trp351delinsAr...
ENST00000279036.12:c.1355_1357del MANE Select	ENSP00000279036.6:p.Lys452_Trp453delinsAr...
ENST00000424705.2:c.91_93del
ENST00000543458.7:c.1187_1189del	ENSP00000441577.1:p.Lys396_Trp397delinsAr...
ENST00000545755.3:c.773_775del	ENSP00000443963.3:p.Lys258_Trp259delinsAr...
ENST00000638241.1:n.1233_1235del
ENST00000638246.1:c.*855_*857del	ENSP00000492883.1:n.*855_*857del
ENST00000638277.1:c.289_291del
ENST00000638383.1:c.*704_*706del	ENSP00000492295.1:n.*704_*706del
ENST00000638387.1:c.*399_*401del	ENSP00000492873.1:n.*399_*401del
ENST00000638415.1:c.892_894del
ENST00000638445.1:c.*739_*741del	ENSP00000491297.1:n.*739_*741del
ENST00000638537.1:n.1144_1146del
ENST00000638594.1:c.1355_1357del	ENSP00000491697.1:p.Lys452_Trp453delinsAr...
ENST00000638612.1:c.1355_1357del	ENSP00000491458.1:p.Lys452_Trp453delinsAr...
ENST00000638671.1:c.*739_*741del	ENSP00000492875.1:n.*739_*741del
ENST00000638689.1:n.3562_3564del
ENST00000638691.1:c.112_114del
ENST00000638710.1:c.1561_1563del	ENSP00000491406.1:n.1561_1563del
ENST00000638714.1:c.*739_*741del	ENSP00000491194.1:n.*739_*741del
ENST00000638745.1:c.*739_*741del	ENSP00000491744.1:n.*739_*741del
ENST00000638927.1:c.497_499del	ENSP00000492335.1:p.Lys166_Trp167delinsAr...
ENST00000638938.1:c.*811_*813del	ENSP00000491171.1:n.*811_*813del
ENST00000638962.1:n.1315_1317del
ENST00000638978.1:c.*15_*17del	ENSP00000492743.1:n.*15_*17del
ENST00000639250.1:n.2605_2607del
ENST00000639292.1:c.1215_1217del
ENST00000639499.1:c.1355_1357del	ENSP00000491170.1:p.Lys452_Trp453delinsAr...
ENST00000639664.1:n.1082_1084del
ENST00000639783.1:c.*657_*659del	ENSP00000491772.1:n.*657_*659del
ENST00000639872.1:n.924_926del
ENST00000639932.1:c.*657_*659del	ENSP00000491600.1:n.*657_*659del
ENST00000639984.1:c.*657_*659del	ENSP00000492727.1:n.*657_*659del
ENST00000640107.1:c.*615_*617del	ENSP00000491118.1:n.*615_*617del
ENST00000640108.1:c.*1044_*1046del	ENSP00000492007.1:n.*1044_*1046del
ENST00000640123.1:c.67_69del
ENST00000640175.1:c.*657_*659del	ENSP00000492418.1:n.*657_*659del
ENST00000640194.1:c.*674_*676del	ENSP00000492279.1:n.*674_*676del
ENST00000640210.1:c.944_946del	ENSP00000491164.1:p.Lys315_Trp316delinsAr...
ENST00000640253.1:n.569_571del
ENST00000640272.1:c.*739_*741del	ENSP00000492270.1:n.*739_*741del
ENST00000640324.1:c.1361_1363del	ENSP00000491074.1:p.Lys454_Trp455delinsAr...
ENST00000640364.1:n.2078_2080del
ENST00000640542.1:c.1154_1156del	ENSP00000492174.1:p.Lys385_Trp386delinsAr...
ENST00000640549.1:c.845_847del	ENSP00000492043.1:p.Lys282_Trp283delinsAr...
ENST00000640585.1:c.*1012_*1014del	ENSP00000491308.1:n.*1012_*1014del
ENST00000640638.1:n.523_525del
ENST00000640666.1:c.1355_1357del	ENSP00000491072.1:p.Lys452_Trp453delinsAr...
ENST00000640692.1:c.*271_*273del	ENSP00000492370.1:n.*271_*273del
ENST00000640940.1:n.1017_1019del
ENST00000640986.1:c.*472_*474del	ENSP00000491886.1:n.*472_*474del
ENST00000640996.1:c.*1032_*1034del	ENSP00000492464.1:n.*1032_*1034del
ENST00000279035.13:c.1049_1051del	ENSP00000279035.8:p.Lys350_Trp351delinsAr...
ENST00000279036.10:c.1355_1357del	ENSP00000279036.6:p.Lys452_Trp453delinsAr...
ENST00000372689.9:c.1154_1156del	ENSP00000361774.4:p.Lys385_Trp386delinsAr...
ENST00000455050.2:c.*886_*888del	ENSP00000407574.2:n.*886_*888del
ENST00000543458.6:c.1187_1189del	ENSP00000441577.1:p.Lys396_Trp397delinsAr...
ENST00000545755.2:c.384_386del
NM_001184728.2:c.1187_1189del	NP_001171657.1:p.Lys396_Trp397delinsArg
NM_001184729.2:c.1154_1156del	NP_001171658.1:p.Lys385_Trp386delinsArg
NM_001184730.2:c.1049_1051del	NP_001171659.1:p.Lys350_Trp351delinsArg
NM_015937.5:c.1355_1357del	NP_057021.2:p.Lys452_Trp453delinsArg
NR_047691.1:n.1405_1407del
NR_047692.1:n.1348_1350del
NR_047693.1:n.1344_1346del
NR_047694.1:n.1267_1269del
NR_047695.1:n.1038_1040del
XM_005260430.2:c.848_850del	XP_005260487.1:p.Lys283_Trp284delinsArg
XM_005260432.1:c.569_571del	XP_005260489.1:p.Lys190_Trp191delinsArg
XM_005260432.3:c.569_571del	XP_005260489.1:p.Lys190_Trp191delinsArg
XR_001754286.2:n.1391_1393del
XR_001754287.2:n.1190_1192del
NM_015937.6:c.1355_1357del MANE Select	NP_057021.2:p.Lys452_Trp453delinsArg
NM_001184728.3:c.1187_1189del	NP_001171657.1:p.Lys396_Trp397delinsArg
NM_001184729.3:c.1154_1156del	NP_001171658.1:p.Lys385_Trp386delinsArg
NM_001184730.3:c.1049_1051del	NP_001171659.1:p.Lys350_Trp351delinsArg
NR_047691.2:n.1331_1333del
NR_047692.2:n.1274_1276del
NR_047693.2:n.1270_1272del
NR_047694.2:n.1193_1195del
NR_047695.2:n.964_966del