Canonical Allele Identifier: CA2580617113

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1809727
• ClinVar RCV Id: RCV002505942 ; RCV003475391

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518470_131518471del , CM000671.2:g.131518470_131518471del	GRCh38
NC_000009.11:g.134393857_134393858del , CM000671.1:g.134393857_134393858del	GRCh37
NC_000009.10:g.133383678_133383679del	NCBI36
NG_008896.1:g.20569_20570del
NG_008896.2:g.20569_20570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1136_1137del	ENSP00000343034.7:p.Thr379ArgfsTer30
ENST00000404875.7:n.1838_1839del
ENST00000423007.6:c.1355_1356del	ENSP00000404119.2:p.Thr452ArgfsTer30
ENST00000677295.2:c.*1642_*1643del	ENSP00000504346.2:n.*1642_*1643del
ENST00000678264.2:c.*1481_*1482del	ENSP00000503157.2:n.*1481_*1482del
ENST00000682070.1:n.1763_1764del
ENST00000682535.1:n.70_71del
ENST00000682539.1:c.236_237del
ENST00000682813.1:n.1563_1564del
ENST00000683110.1:n.26_27del
ENST00000683392.1:n.4045_4046del
ENST00000683712.1:n.1703_1704del
ENST00000683900.1:n.3198_3199del
ENST00000684062.1:n.1964_1965del
ENST00000684579.1:n.3144_3145del
ENST00000684679.1:n.525_526del
ENST00000341012.12:c.1136_1137del	ENSP00000343034.7:p.Thr379ArgfsTer30
ENST00000372220.5:c.167_168del	ENSP00000361294.5:p.Thr56ArgfsTer30
ENST00000372228.9:c.1364_1365del	ENSP00000361302.3:p.Thr455ArgfsTer30
ENST00000402686.8:c.1298_1299del MANE Select	ENSP00000385797.4:p.Thr433ArgfsTer30
ENST00000676640.1:c.1298_1299del	ENSP00000503281.1:p.Thr433ArgfsTer30
ENST00000676803.1:c.473_474del	ENSP00000503093.1:p.Thr158ArgfsTer30
ENST00000676835.1:c.*513_*514del	ENSP00000502911.1:n.*513_*514del
ENST00000677029.1:c.842_843del	ENSP00000502936.1:p.Thr281ArgfsTer30
ENST00000677099.1:c.*1008_*1009del	ENSP00000504553.1:n.*1008_*1009del
ENST00000677216.1:c.947_948del	ENSP00000503772.1:p.Thr316ArgfsTer30
ENST00000677221.1:n.323_324del
ENST00000677295.1:c.*675_*676del	ENSP00000504346.1:n.*675_*676del
ENST00000677444.1:c.1104_1105del
ENST00000677586.1:n.779_780del
ENST00000677626.1:c.947_948del	ENSP00000503552.1:p.Thr316ArgfsTer30
ENST00000677677.1:n.1258_1259del
ENST00000677853.1:c.*306_*307del	ENSP00000503488.1:n.*306_*307del
ENST00000677983.1:n.387_388del
ENST00000678202.1:n.318_319del
ENST00000678264.1:c.*675_*676del	ENSP00000503157.1:n.*675_*676del
ENST00000678303.1:c.1208_1209del	ENSP00000503696.1:p.Thr403ArgfsTer30
ENST00000678366.1:c.*1547_*1548del	ENSP00000504353.1:n.*1547_*1548del
ENST00000678546.1:c.*1243_*1244del	ENSP00000503062.1:n.*1243_*1244del
ENST00000678548.1:c.*1370_*1371del	ENSP00000503934.1:n.*1370_*1371del
ENST00000678626.1:n.995_996del
ENST00000678733.1:c.379_380del
ENST00000678739.1:c.*1624_*1625del	ENSP00000503806.1:n.*1624_*1625del
ENST00000678795.1:n.385_386del
ENST00000678833.1:c.*745_*746del	ENSP00000503893.1:n.*745_*746del
ENST00000678942.1:c.478_479del	ENSP00000504690.1:n.478_479del
ENST00000679023.1:c.1136_1137del	ENSP00000503718.1:p.Thr379ArgfsTer30
ENST00000679076.1:c.917_918del
ENST00000679111.1:c.1298_1299del	ENSP00000504257.1:p.Thr433ArgfsTer?
ENST00000679189.1:c.947_948del	ENSP00000503356.1:p.Thr316ArgfsTer30
ENST00000341012.11:c.1136_1137del	ENSP00000343034.7:p.Thr379ArgfsTer30
ENST00000372220.4:c.161_162del	ENSP00000361294.4:p.Thr54ArgfsTer30
ENST00000372228.7:c.1364_1365del	ENSP00000361302.3:p.Thr455ArgfsTer30
ENST00000402686.7:c.1298_1299del	ENSP00000385797.3:p.Thr433ArgfsTer30
ENST00000404875.6:c.947_948del	ENSP00000384531.2:p.Thr316ArgfsTer30
ENST00000423007.5:c.1298_1299del	ENSP00000404119.1:p.Thr433ArgfsTer30
ENST00000485278.5:n.1853_1854del
NM_001077365.1:c.1298_1299del	NP_001070833.1:p.Thr433ArgfsTer30
NM_001077366.1:c.1136_1137del	NP_001070834.1:p.Thr379ArgfsTer30
NM_001136113.1:c.1298_1299del	NP_001129585.1:p.Thr433ArgfsTer30
NM_001136114.1:c.947_948del	NP_001129586.1:p.Thr316ArgfsTer30
NM_007171.3:c.1364_1365del	NP_009102.3:p.Thr455ArgfsTer30
XM_005272156.1:c.1364_1365del	XP_005272213.1:p.Thr455ArgfsTer30
XM_005272158.1:c.1202_1203del	XP_005272215.1:p.Thr401ArgfsTer30
XM_005272159.1:c.1013_1014del	XP_005272216.1:p.Thr338ArgfsTer30
XM_005272162.1:c.167_168del	XP_005272219.1:p.Thr56ArgfsTer30
XM_006716932.1:c.1013_1014del	XP_006716995.1:p.Thr338ArgfsTer30
XM_011518140.1:c.1217_1218del	XP_011516442.1:p.Thr406ArgfsTer30
XM_011518141.1:c.1151_1152del	XP_011516443.1:p.Thr384ArgfsTer30
XM_011518142.1:c.1055_1056del	XP_011516444.1:p.Thr352ArgfsTer30
XM_011518143.1:c.1049_1050del	XP_011516445.1:p.Thr350ArgfsTer30
XM_011518144.1:c.1364_1365del	XP_011516446.1:p.Thr455ArgfsTer?
XM_011518145.1:c.908_909del	XP_011516447.1:p.Thr303ArgfsTer30
XM_011518146.1:c.1049_1050del	XP_011516448.1:p.Thr350ArgfsTer?
XM_011518147.1:c.236_237del	XP_011516449.1:p.Thr79ArgfsTer30
XR_929703.1:n.1540_1541del
NM_001353193.1:c.1364_1365del	NP_001340122.1:p.Thr455ArgfsTer30
NM_001353194.1:c.1136_1137del	NP_001340123.1:p.Thr379ArgfsTer30
NM_001353195.1:c.947_948del	NP_001340124.1:p.Thr316ArgfsTer30
NM_001353196.1:c.1208_1209del	NP_001340125.1:p.Thr403ArgfsTer30
NM_001353197.1:c.1202_1203del	NP_001340126.1:p.Thr401ArgfsTer30
NM_001353198.1:c.1202_1203del	NP_001340127.1:p.Thr401ArgfsTer30
NM_001353199.1:c.1013_1014del	NP_001340128.1:p.Thr338ArgfsTer30
NM_001353200.1:c.842_843del	NP_001340129.1:p.Thr281ArgfsTer30
NR_148391.1:n.1348_1349del
NR_148392.1:n.1566_1567del
NR_148393.1:n.1348_1349del
NR_148394.1:n.1241_1242del
NR_148395.1:n.1500_1501del
NR_148396.1:n.1134_1135del
NR_148397.1:n.1398_1399del
NR_148398.1:n.1353_1354del
NR_148399.1:n.1740_1741del
NR_148400.1:n.1339_1340del
XM_005272162.3:c.167_168del	XP_005272219.1:p.Thr56ArgfsTer30
XM_006716932.2:c.1013_1014del	XP_006716995.1:p.Thr338ArgfsTer30
XM_011518140.2:c.1217_1218del	XP_011516442.1:p.Thr406ArgfsTer30
XM_011518141.2:c.1151_1152del	XP_011516443.1:p.Thr384ArgfsTer30
XM_011518142.2:c.1055_1056del	XP_011516444.1:p.Thr352ArgfsTer30
XM_011518143.2:c.1049_1050del	XP_011516445.1:p.Thr350ArgfsTer30
XM_011518145.2:c.908_909del	XP_011516447.1:p.Thr303ArgfsTer30
XM_017014205.2:c.167_168del	XP_016869694.1:p.Thr56ArgfsTer30
XM_024447380.1:c.167_168del	XP_024303148.1:p.Thr56ArgfsTer30
XM_024447381.1:c.473_474del	XP_024303149.1:p.Thr158ArgfsTer30
XM_024447382.1:c.167_168del	XP_024303150.1:p.Thr56ArgfsTer30
XR_001746160.2:n.1468_1469del
XR_001746162.2:n.1534_1535del
XR_001746164.1:n.1251_1252del
XR_001746166.2:n.1685_1686del
NM_001077365.2:c.1298_1299del MANE Select	NP_001070833.1:p.Thr433ArgfsTer30
NM_001077366.2:c.1136_1137del	NP_001070834.1:p.Thr379ArgfsTer30
NM_001136113.2:c.1298_1299del	NP_001129585.1:p.Thr433ArgfsTer30
NM_001136114.2:c.947_948del	NP_001129586.1:p.Thr316ArgfsTer30
NM_001353193.2:c.1364_1365del	NP_001340122.2:p.Thr455ArgfsTer30
NM_001353194.2:c.1136_1137del	NP_001340123.1:p.Thr379ArgfsTer30
NM_001353195.2:c.947_948del	NP_001340124.1:p.Thr316ArgfsTer30
NM_001353196.2:c.1208_1209del	NP_001340125.1:p.Thr403ArgfsTer30
NM_001353197.2:c.1202_1203del	NP_001340126.2:p.Thr401ArgfsTer30
NM_001353198.2:c.1202_1203del	NP_001340127.2:p.Thr401ArgfsTer30
NM_001353199.2:c.1013_1014del	NP_001340128.2:p.Thr338ArgfsTer30
NM_001353200.2:c.842_843del	NP_001340129.1:p.Thr281ArgfsTer30
NM_001374689.1:c.1286_1287del	NP_001361618.1:p.Thr429ArgfsTer30
NM_001374690.1:c.1298_1299del	NP_001361619.1:p.Thr433ArgfsTer?
NM_001374691.1:c.947_948del	NP_001361620.1:p.Thr316ArgfsTer30
NM_001374692.1:c.947_948del	NP_001361621.1:p.Thr316ArgfsTer30
NM_001374693.1:c.947_948del	NP_001361622.1:p.Thr316ArgfsTer30
NM_001374695.1:c.908_909del	NP_001361624.1:p.Thr303ArgfsTer30
NM_007171.4:c.1364_1365del	NP_009102.4:p.Thr455ArgfsTer30
NR_148391.2:n.1332_1333del
NR_148392.2:n.1550_1551del
NR_148393.2:n.1332_1333del
NR_148394.2:n.1225_1226del
NR_148395.2:n.1484_1485del
NR_148396.2:n.1118_1119del
NR_148397.2:n.1382_1383del
NR_148398.2:n.1337_1338del
NR_148399.2:n.1724_1725del
NR_148400.2:n.1323_1324del