Canonical Allele Identifier: CA2653055175
Community Standard Title: NM_015937.6(PIGT):c.1485-181_1485-178dup
Gene: PIGT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45425393_45425396dup , CM000682.2:g.45425393_45425396dup GRCh38
NC_000020.10:g.44054033_44054036dup , CM000682.1:g.44054033_44054036dup GRCh37
NC_000020.9:g.43487447_43487450dup NCBI36
NG_047154.1:g.14327_14330dup

Transcript Alleles

HGVS Amino-acid Change
NM_015937.6:c.1485-181_1485-178dup MANE Select NP_057021.2:n.1485-181_1485-178dup
ENST00000279036.12:c.1485-181_1485-178dup MANE Select ENSP00000279036.6:n.1485-181_1485-178dup
NM_001184728.2:c.1317-181_1317-178dup NP_001171657.1:n.1317-181_1317-178dup
NM_001184728.3:c.1317-181_1317-178dup NP_001171657.1:n.1317-181_1317-178dup
NM_001184729.2:c.1284-181_1284-178dup NP_001171658.1:n.1284-181_1284-178dup
NM_001184729.3:c.1284-181_1284-178dup NP_001171658.1:n.1284-181_1284-178dup
NM_001184730.2:c.1179-181_1179-178dup NP_001171659.1:n.1179-181_1179-178dup
NM_001184730.3:c.1179-181_1179-178dup NP_001171659.1:n.1179-181_1179-178dup
NM_015937.5:c.1485-181_1485-178dup NP_057021.2:n.1485-181_1485-178dup
NR_047691.1:n.1535-181_1535-178dup
NR_047691.2:n.1461-181_1461-178dup
NR_047692.1:n.1478-181_1478-178dup
NR_047692.2:n.1404-181_1404-178dup
NR_047693.1:n.1474-181_1474-178dup
NR_047693.2:n.1400-181_1400-178dup
NR_047694.1:n.1397-181_1397-178dup
NR_047694.2:n.1323-181_1323-178dup
NR_047695.1:n.1168-181_1168-178dup
NR_047695.2:n.1094-181_1094-178dup
ENST00000279035.13:c.1179-181_1179-178dup ENSP00000279035.8:n.1179-181_1179-178dup
ENST00000279035.14:c.1179-181_1179-178dup ENSP00000279035.8:n.1179-181_1179-178dup
ENST00000279036.10:c.1485-181_1485-178dup ENSP00000279036.6:n.1485-181_1485-178dup
ENST00000372689.9:c.1284-181_1284-178dup ENSP00000361774.4:n.1284-181_1284-178dup
ENST00000424705.2:c.220+814_220+817dup
ENST00000424705.3:c.1484+814_1484+817dup ENSP00000491856.2:n.1484+814_1484+817dup
ENST00000455050.2:c.*1016-181_*1016-178dup ENSP00000407574.2:n.*1016-181_*1016-178dup
ENST00000543458.6:c.1317-181_1317-178dup ENSP00000441577.1:n.1317-181_1317-178dup
ENST00000543458.7:c.1317-181_1317-178dup ENSP00000441577.1:n.1317-181_1317-178dup
ENST00000545755.3:c.903-181_903-178dup ENSP00000443963.3:n.903-181_903-178dup
ENST00000638241.1:n.1363-181_1363-178dup
ENST00000638246.1:c.*985-181_*985-178dup ENSP00000492883.1:n.*985-181_*985-178dup
ENST00000638277.1:c.418+814_418+817dup
ENST00000638383.1:c.*834-181_*834-178dup ENSP00000492295.1:n.*834-181_*834-178dup
ENST00000638387.1:c.*529-181_*529-178dup ENSP00000492873.1:n.*529-181_*529-178dup
ENST00000638415.1:c.1021+814_1021+817dup
ENST00000638445.1:c.*869-181_*869-178dup ENSP00000491297.1:n.*869-181_*869-178dup
ENST00000638537.1:n.1274-181_1274-178dup
ENST00000638594.1:c.1484+814_1484+817dup ENSP00000491697.1:n.1484+814_1484+817dup
ENST00000638612.1:c.1484+814_1484+817dup ENSP00000491458.1:n.1484+814_1484+817dup
ENST00000638671.1:c.*869-181_*869-178dup ENSP00000492875.1:n.*869-181_*869-178dup
ENST00000638689.1:n.3692-181_3692-178dup
ENST00000638691.1:c.158-181_158-178dup
ENST00000638691.2:c.1401-181_1401-178dup ENSP00000492094.2:n.1401-181_1401-178dup
ENST00000638710.1:c.1691-181_1691-178dup ENSP00000491406.1:n.1691-181_1691-178dup
ENST00000638714.1:c.*869-181_*869-178dup ENSP00000491194.1:n.*869-181_*869-178dup
ENST00000638745.1:c.*868+814_*868+817dup ENSP00000491744.1:n.*868+814_*868+817dup
ENST00000638927.1:c.626+814_626+817dup ENSP00000492335.1:n.626+814_626+817dup
ENST00000638938.1:c.*941-181_*941-178dup ENSP00000491171.1:n.*941-181_*941-178dup
ENST00000638962.1:n.1445-181_1445-178dup
ENST00000638978.1:c.*145-181_*145-178dup ENSP00000492743.1:n.*145-181_*145-178dup
ENST00000639250.1:n.2735-181_2735-178dup
ENST00000639292.1:c.1345-181_1345-178dup
ENST00000639292.2:c.1566-181_1566-178dup ENSP00000491678.2:n.1566-181_1566-178dup
ENST00000639664.1:n.1212-181_1212-178dup
ENST00000639783.1:c.*787-181_*787-178dup ENSP00000491772.1:n.*787-181_*787-178dup
ENST00000639872.1:n.1054-181_1054-178dup
ENST00000639932.1:c.*787-181_*787-178dup ENSP00000491600.1:n.*787-181_*787-178dup
ENST00000639984.1:c.*787-181_*787-178dup ENSP00000492727.1:n.*787-181_*787-178dup
ENST00000640107.1:c.*745-181_*745-178dup ENSP00000491118.1:n.*745-181_*745-178dup
ENST00000640108.1:c.*1174-181_*1174-178dup ENSP00000492007.1:n.*1174-181_*1174-178dup
ENST00000640123.1:c.232-181_232-178dup
ENST00000640175.1:c.*787-181_*787-178dup ENSP00000492418.1:n.*787-181_*787-178dup
ENST00000640194.1:c.*804-181_*804-178dup ENSP00000492279.1:n.*804-181_*804-178dup
ENST00000640210.1:c.1074-181_1074-178dup ENSP00000491164.1:n.1074-181_1074-178dup
ENST00000640253.1:n.813-181_813-178dup
ENST00000640272.1:c.*869-181_*869-178dup ENSP00000492270.1:n.*869-181_*869-178dup
ENST00000640324.1:c.1491-181_1491-178dup ENSP00000491074.1:n.1491-181_1491-178dup
ENST00000640364.1:n.2208-181_2208-178dup
ENST00000640542.1:c.1283+814_1283+817dup ENSP00000492174.1:n.1283+814_1283+817dup
ENST00000640549.1:c.974+814_974+817dup ENSP00000492043.1:n.974+814_974+817dup
ENST00000640549.2:c.1484+814_1484+817dup ENSP00000492043.2:n.1484+814_1484+817dup
ENST00000640585.1:c.*1142-181_*1142-178dup ENSP00000491308.1:n.*1142-181_*1142-178dup
ENST00000640666.1:c.1484+814_1484+817dup ENSP00000491072.1:n.1484+814_1484+817dup
ENST00000640692.1:c.*401-181_*401-178dup ENSP00000492370.1:n.*401-181_*401-178dup
ENST00000640940.1:n.1147-181_1147-178dup
ENST00000640986.1:c.*602-181_*602-178dup ENSP00000491886.1:n.*602-181_*602-178dup
ENST00000640996.1:c.*1162-181_*1162-178dup ENSP00000492464.1:n.*1162-181_*1162-178dup
ENST00000687237.1:n.791-181_791-178dup
ENST00000689203.1:c.1484+814_1484+817dup ENSP00000508682.1:n.1484+814_1484+817dup
ENST00000690879.1:n.876+1012_876+1015dup
ENST00000692236.1:c.1484+814_1484+817dup ENSP00000509421.1:n.1484+814_1484+817dup
XM_005260430.2:c.978-181_978-178dup XP_005260487.1:n.978-181_978-178dup
XM_005260432.1:c.699-181_699-178dup XP_005260489.1:n.699-181_699-178dup
XM_005260432.3:c.699-181_699-178dup XP_005260489.1:n.699-181_699-178dup
XR_001754286.2:n.1521-181_1521-178dup
XR_001754287.2:n.1320-181_1320-178dup