Canonical Allele Identifier: CA1881756634
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515464_131515465delinsAG , CM000671.2:g.131515464_131515465delinsAG GRCh38
NC_000009.11:g.134390851_134390852delinsAG , CM000671.1:g.134390851_134390852delinsAG GRCh37
NC_000009.10:g.133380672_133380673delinsAG NCBI36
NG_008896.1:g.17563_17564delinsAG
NG_008896.2:g.17563_17564delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1052_1053delinsAG ENSP00000343034.7:p.Glu351=
ENST00000404875.7:n.1754_1755delinsAG
ENST00000423007.6:c.1271_1272delinsAG ENSP00000404119.2:p.Glu424=
ENST00000677295.2:c.*1558_*1559delinsAG ENSP00000504346.2:n.*1558_*1559delinsAG
ENST00000678264.2:c.*1397_*1398delinsAG ENSP00000503157.2:n.*1397_*1398delinsAG
ENST00000682070.1:n.1679_1680delinsAG
ENST00000682539.1:c.39_40delinsAG
ENST00000682813.1:n.1479_1480delinsAG
ENST00000683392.1:n.3961_3962delinsAG
ENST00000683712.1:n.1619_1620delinsAG
ENST00000683900.1:n.3114_3115delinsAG
ENST00000684062.1:n.1880_1881delinsAG
ENST00000684579.1:n.3060_3061delinsAG
ENST00000341012.12:c.1052_1053delinsAG ENSP00000343034.7:p.Glu351=
ENST00000372220.5:c.83_84delinsAG ENSP00000361294.5:p.Glu28=
ENST00000372228.9:c.1280_1281delinsAG ENSP00000361302.3:p.Glu427=
ENST00000402686.8:c.1214_1215delinsAG MANE Select ENSP00000385797.4:p.Glu405=
ENST00000676640.1:c.1214_1215delinsAG ENSP00000503281.1:p.Glu405=
ENST00000676803.1:c.389_390delinsAG ENSP00000503093.1:p.Glu130=
ENST00000676835.1:c.*429_*430delinsAG ENSP00000502911.1:n.*429_*430delinsAG
ENST00000677029.1:c.758_759delinsAG ENSP00000502936.1:p.Glu253=
ENST00000677099.1:c.*924_*925delinsAG ENSP00000504553.1:n.*924_*925delinsAG
ENST00000677216.1:c.863_864delinsAG ENSP00000503772.1:p.Glu288=
ENST00000677295.1:c.*591_*592delinsAG ENSP00000504346.1:n.*591_*592delinsAG
ENST00000677444.1:c.1020_1021delinsAG
ENST00000677586.1:n.695_696delinsAG
ENST00000677626.1:c.863_864delinsAG ENSP00000503552.1:p.Glu288=
ENST00000677677.1:n.1174_1175delinsAG
ENST00000677853.1:c.*222_*223delinsAG ENSP00000503488.1:n.*222_*223delinsAG
ENST00000677944.1:c.476_477delinsAG
ENST00000678264.1:c.*591_*592delinsAG ENSP00000503157.1:n.*591_*592delinsAG
ENST00000678303.1:c.1124_1125delinsAG ENSP00000503696.1:p.Glu375=
ENST00000678366.1:c.*1463_*1464delinsAG ENSP00000504353.1:n.*1463_*1464delinsAG
ENST00000678546.1:c.*1159_*1160delinsAG ENSP00000503062.1:n.*1159_*1160delinsAG
ENST00000678548.1:c.*1286_*1287delinsAG ENSP00000503934.1:n.*1286_*1287delinsAG
ENST00000678626.1:n.911_912delinsAG
ENST00000678733.1:c.295_296delinsAG
ENST00000678739.1:c.*1540_*1541delinsAG ENSP00000503806.1:n.*1540_*1541delinsAG
ENST00000678795.1:n.301_302delinsAG
ENST00000678833.1:c.*661_*662delinsAG ENSP00000503893.1:n.*661_*662delinsAG
ENST00000678942.1:c.394_395delinsAG ENSP00000504690.1:n.394_395delinsAG
ENST00000679023.1:c.1052_1053delinsAG ENSP00000503718.1:p.Glu351=
ENST00000679076.1:c.833_834delinsAG
ENST00000679111.1:c.1214_1215delinsAG ENSP00000504257.1:p.Glu405=
ENST00000679189.1:c.863_864delinsAG ENSP00000503356.1:p.Glu288=
ENST00000341012.11:c.1052_1053delinsAG ENSP00000343034.7:p.Glu351=
ENST00000372228.7:c.1280_1281delinsAG ENSP00000361302.3:p.Glu427=
ENST00000402686.7:c.1214_1215delinsAG ENSP00000385797.3:p.Glu405=
ENST00000404875.6:c.863_864delinsAG ENSP00000384531.2:p.Glu288=
ENST00000423007.5:c.1214_1215delinsAG ENSP00000404119.1:p.Glu405=
ENST00000485278.5:n.1769_1770delinsAG
NM_001077365.1:c.1214_1215delinsAG NP_001070833.1:p.Glu405=
NM_001077366.1:c.1052_1053delinsAG NP_001070834.1:p.Glu351=
NM_001136113.1:c.1214_1215delinsAG NP_001129585.1:p.Glu405=
NM_001136114.1:c.863_864delinsAG NP_001129586.1:p.Glu288=
NM_007171.3:c.1280_1281delinsAG NP_009102.3:p.Glu427=
XM_005272156.1:c.1280_1281delinsAG XP_005272213.1:p.Glu427=
XM_005272158.1:c.1118_1119delinsAG XP_005272215.1:p.Glu373=
XM_005272159.1:c.929_930delinsAG XP_005272216.1:p.Glu310=
XM_005272162.1:c.83_84delinsAG XP_005272219.1:p.Glu28=
XM_006716932.1:c.929_930delinsAG XP_006716995.1:p.Glu310=
XM_011518140.1:c.1133_1134delinsAG XP_011516442.1:p.Glu378=
XM_011518141.1:c.1067_1068delinsAG XP_011516443.1:p.Glu356=
XM_011518142.1:c.971_972delinsAG XP_011516444.1:p.Glu324=
XM_011518143.1:c.965_966delinsAG XP_011516445.1:p.Glu322=
XM_011518144.1:c.1280_1281delinsAG XP_011516446.1:p.Glu427=
XM_011518145.1:c.824_825delinsAG XP_011516447.1:p.Glu275=
XM_011518146.1:c.965_966delinsAG XP_011516448.1:p.Glu322=
XR_929703.1:n.1456_1457delinsAG
NM_001353193.1:c.1280_1281delinsAG NP_001340122.1:p.Glu427=
NM_001353194.1:c.1052_1053delinsAG NP_001340123.1:p.Glu351=
NM_001353195.1:c.863_864delinsAG NP_001340124.1:p.Glu288=
NM_001353196.1:c.1124_1125delinsAG NP_001340125.1:p.Glu375=
NM_001353197.1:c.1118_1119delinsAG NP_001340126.1:p.Glu373=
NM_001353198.1:c.1118_1119delinsAG NP_001340127.1:p.Glu373=
NM_001353199.1:c.929_930delinsAG NP_001340128.1:p.Glu310=
NM_001353200.1:c.758_759delinsAG NP_001340129.1:p.Glu253=
NR_148391.1:n.1264_1265delinsAG
NR_148392.1:n.1482_1483delinsAG
NR_148393.1:n.1264_1265delinsAG
NR_148394.1:n.1157_1158delinsAG
NR_148395.1:n.1416_1417delinsAG
NR_148396.1:n.1050_1051delinsAG
NR_148397.1:n.1314_1315delinsAG
NR_148398.1:n.1269_1270delinsAG
NR_148399.1:n.1656_1657delinsAG
NR_148400.1:n.1255_1256delinsAG
XM_005272162.3:c.83_84delinsAG XP_005272219.1:p.Glu28=
XM_006716932.2:c.929_930delinsAG XP_006716995.1:p.Glu310=
XM_011518140.2:c.1133_1134delinsAG XP_011516442.1:p.Glu378=
XM_011518141.2:c.1067_1068delinsAG XP_011516443.1:p.Glu356=
XM_011518142.2:c.971_972delinsAG XP_011516444.1:p.Glu324=
XM_011518143.2:c.965_966delinsAG XP_011516445.1:p.Glu322=
XM_011518145.2:c.824_825delinsAG XP_011516447.1:p.Glu275=
XM_017014205.2:c.83_84delinsAG XP_016869694.1:p.Glu28=
XM_024447380.1:c.83_84delinsAG XP_024303148.1:p.Glu28=
XM_024447381.1:c.389_390delinsAG XP_024303149.1:p.Glu130=
XM_024447382.1:c.83_84delinsAG XP_024303150.1:p.Glu28=
XR_001746160.2:n.1384_1385delinsAG
XR_001746162.2:n.1450_1451delinsAG
XR_001746164.1:n.1167_1168delinsAG
XR_001746166.2:n.1601_1602delinsAG
NM_001077365.2:c.1214_1215delinsAG MANE Select NP_001070833.1:p.Glu405=
NM_001077366.2:c.1052_1053delinsAG NP_001070834.1:p.Glu351=
NM_001136113.2:c.1214_1215delinsAG NP_001129585.1:p.Glu405=
NM_001136114.2:c.863_864delinsAG NP_001129586.1:p.Glu288=
NM_001353193.2:c.1280_1281delinsAG NP_001340122.2:p.Glu427=
NM_001353194.2:c.1052_1053delinsAG NP_001340123.1:p.Glu351=
NM_001353195.2:c.863_864delinsAG NP_001340124.1:p.Glu288=
NM_001353196.2:c.1124_1125delinsAG NP_001340125.1:p.Glu375=
NM_001353197.2:c.1118_1119delinsAG NP_001340126.2:p.Glu373=
NM_001353198.2:c.1118_1119delinsAG NP_001340127.2:p.Glu373=
NM_001353199.2:c.929_930delinsAG NP_001340128.2:p.Glu310=
NM_001353200.2:c.758_759delinsAG NP_001340129.1:p.Glu253=
NM_001374689.1:c.1202_1203delinsAG NP_001361618.1:p.Glu401=
NM_001374690.1:c.1214_1215delinsAG NP_001361619.1:p.Glu405=
NM_001374691.1:c.863_864delinsAG NP_001361620.1:p.Glu288=
NM_001374692.1:c.863_864delinsAG NP_001361621.1:p.Glu288=
NM_001374693.1:c.863_864delinsAG NP_001361622.1:p.Glu288=
NM_001374695.1:c.824_825delinsAG NP_001361624.1:p.Glu275=
NM_007171.4:c.1280_1281delinsAG NP_009102.4:p.Glu427=
NR_148391.2:n.1248_1249delinsAG
NR_148392.2:n.1466_1467delinsAG
NR_148393.2:n.1248_1249delinsAG
NR_148394.2:n.1141_1142delinsAG
NR_148395.2:n.1400_1401delinsAG
NR_148396.2:n.1034_1035delinsAG
NR_148397.2:n.1298_1299delinsAG
NR_148398.2:n.1253_1254delinsAG
NR_148399.2:n.1640_1641delinsAG
NR_148400.2:n.1239_1240delinsAG