Canonical Allele Identifier: CA5293495
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs751550101

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131512043_131512044del , CM000671.2:g.131512043_131512044del GRCh38
NC_000009.11:g.134387430_134387431del , CM000671.1:g.134387430_134387431del GRCh37
NC_000009.10:g.133377251_133377252del NCBI36
NG_008896.1:g.14142_14143del
NG_008896.2:g.14142_14143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.827_828del ENSP00000343034.7:p.Tyr276Ter
ENST00000404875.7:n.1529_1530del
ENST00000423007.6:c.1046_1047del ENSP00000404119.2:p.Tyr349Ter
ENST00000677295.2:c.*1333_*1334del ENSP00000504346.2:n.*1333_*1334del
ENST00000678264.2:c.*1172_*1173del ENSP00000503157.2:n.*1172_*1173del
ENST00000678942.2:c.*542_*543del ENSP00000504690.2:n.*542_*543del
ENST00000682070.1:n.1454_1455del
ENST00000682813.1:n.1254_1255del
ENST00000683392.1:n.3736_3737del
ENST00000683712.1:n.1394_1395del
ENST00000683900.1:n.2889_2890del
ENST00000684062.1:n.1655_1656del
ENST00000684579.1:n.2835_2836del
ENST00000341012.12:c.827_828del ENSP00000343034.7:p.Tyr276Ter
ENST00000372220.5:c.-143_-142del ENSP00000361294.5:n.-143_-142del
ENST00000372228.9:c.1055_1056del ENSP00000361302.3:p.Tyr352Ter
ENST00000402686.8:c.989_990del MANE Select ENSP00000385797.4:p.Tyr330Ter
ENST00000415075.6:c.*447_*448del ENSP00000405149.2:n.*447_*448del
ENST00000676640.1:c.989_990del ENSP00000503281.1:p.Tyr330Ter
ENST00000676803.1:c.164_165del ENSP00000503093.1:p.Tyr55Ter
ENST00000676835.1:c.*204_*205del ENSP00000502911.1:n.*204_*205del
ENST00000677029.1:c.533_534del ENSP00000502936.1:p.Tyr178Ter
ENST00000677099.1:c.*699_*700del ENSP00000504553.1:n.*699_*700del
ENST00000677216.1:c.638_639del ENSP00000503772.1:p.Tyr213Ter
ENST00000677293.1:c.164_165del ENSP00000504278.1:p.Tyr55Ter
ENST00000677295.1:c.*366_*367del ENSP00000504346.1:n.*366_*367del
ENST00000677444.1:c.795_796del
ENST00000677586.1:n.470_471del
ENST00000677626.1:c.824+576_824+577del ENSP00000503552.1:n.824+576_824+577del
ENST00000677677.1:n.949_950del
ENST00000677853.1:c.570_571del ENSP00000503488.1:p.Ile190MetfsTer13
ENST00000677944.1:c.251_252del
ENST00000678264.1:c.*366_*367del ENSP00000503157.1:n.*366_*367del
ENST00000678303.1:c.899_900del ENSP00000503696.1:p.Tyr300Ter
ENST00000678366.1:c.*1238_*1239del ENSP00000504353.1:n.*1238_*1239del
ENST00000678546.1:c.*934_*935del ENSP00000503062.1:n.*934_*935del
ENST00000678548.1:c.*1061_*1062del ENSP00000503934.1:n.*1061_*1062del
ENST00000678626.1:n.686_687del
ENST00000678733.1:c.163_164del
ENST00000678739.1:c.*1315_*1316del ENSP00000503806.1:n.*1315_*1316del
ENST00000678795.1:n.76_77del
ENST00000678833.1:c.*436_*437del ENSP00000503893.1:n.*436_*437del
ENST00000678942.1:c.169_170del ENSP00000504690.1:n.169_170del
ENST00000679023.1:c.827_828del ENSP00000503718.1:p.Tyr276Ter
ENST00000679073.1:c.367_368del ENSP00000504356.1:n.367_368del
ENST00000679076.1:c.608_609del
ENST00000679111.1:c.989_990del ENSP00000504257.1:p.Tyr330Ter
ENST00000679189.1:c.638_639del ENSP00000503356.1:p.Tyr213Ter
ENST00000341012.11:c.827_828del ENSP00000343034.7:p.Tyr276Ter
ENST00000372228.7:c.1055_1056del ENSP00000361302.3:p.Tyr352Ter
ENST00000402686.7:c.989_990del ENSP00000385797.3:p.Tyr330Ter
ENST00000404875.6:c.638_639del ENSP00000384531.2:p.Tyr213Ter
ENST00000415075.5:c.386_387del ENSP00000405149.1:p.Tyr129Ter
ENST00000423007.5:c.989_990del ENSP00000404119.1:p.Tyr330Ter
ENST00000441334.5:c.704_705del ENSP00000395060.1:p.Tyr235Ter
ENST00000462375.5:n.815_816del
ENST00000485278.5:n.1544_1545del
NM_001077365.1:c.989_990del NP_001070833.1:p.Tyr330Ter
NM_001077366.1:c.827_828del NP_001070834.1:p.Tyr276Ter
NM_001136113.1:c.989_990del NP_001129585.1:p.Tyr330Ter
NM_001136114.1:c.638_639del NP_001129586.1:p.Tyr213Ter
NM_007171.3:c.1055_1056del NP_009102.3:p.Tyr352Ter
XM_005272156.1:c.1055_1056del XP_005272213.1:p.Tyr352Ter
XM_005272158.1:c.893_894del XP_005272215.1:p.Tyr298Ter
XM_005272159.1:c.704_705del XP_005272216.1:p.Tyr235Ter
XM_005272162.1:c.-143_-142del XP_005272219.1:n.-143_-142del
XM_006716932.1:c.704_705del XP_006716995.1:p.Tyr235Ter
XM_011518140.1:c.908_909del XP_011516442.1:p.Tyr303Ter
XM_011518141.1:c.842_843del XP_011516443.1:p.Tyr281Ter
XM_011518142.1:c.746_747del XP_011516444.1:p.Tyr249Ter
XM_011518143.1:c.740_741del XP_011516445.1:p.Tyr247Ter
XM_011518144.1:c.1055_1056del XP_011516446.1:p.Tyr352Ter
XM_011518145.1:c.599_600del XP_011516447.1:p.Tyr200Ter
XM_011518146.1:c.740_741del XP_011516448.1:p.Tyr247Ter
XR_929703.1:n.1231_1232del
NM_001353193.1:c.1055_1056del NP_001340122.1:p.Tyr352Ter
NM_001353194.1:c.827_828del NP_001340123.1:p.Tyr276Ter
NM_001353195.1:c.638_639del NP_001340124.1:p.Tyr213Ter
NM_001353196.1:c.899_900del NP_001340125.1:p.Tyr300Ter
NM_001353197.1:c.893_894del NP_001340126.1:p.Tyr298Ter
NM_001353198.1:c.893_894del NP_001340127.1:p.Tyr298Ter
NM_001353199.1:c.704_705del NP_001340128.1:p.Tyr235Ter
NM_001353200.1:c.533_534del NP_001340129.1:p.Tyr178Ter
NR_148391.1:n.1039_1040del
NR_148392.1:n.1257_1258del
NR_148393.1:n.1039_1040del
NR_148394.1:n.932_933del
NR_148395.1:n.1191_1192del
NR_148396.1:n.825_826del
NR_148397.1:n.1089_1090del
NR_148398.1:n.1044_1045del
NR_148399.1:n.1431_1432del
NR_148400.1:n.1030_1031del
XM_005272162.3:c.-143_-142del XP_005272219.1:n.-143_-142del
XM_006716932.2:c.704_705del XP_006716995.1:p.Tyr235Ter
XM_011518140.2:c.908_909del XP_011516442.1:p.Tyr303Ter
XM_011518141.2:c.842_843del XP_011516443.1:p.Tyr281Ter
XM_011518142.2:c.746_747del XP_011516444.1:p.Tyr249Ter
XM_011518143.2:c.740_741del XP_011516445.1:p.Tyr247Ter
XM_011518145.2:c.599_600del XP_011516447.1:p.Tyr200Ter
XM_017014205.2:c.-143_-142del XP_016869694.1:n.-143_-142del
XM_024447380.1:c.-143_-142del XP_024303148.1:n.-143_-142del
XM_024447381.1:c.164_165del XP_024303149.1:p.Tyr55Ter
XM_024447382.1:c.-143_-142del XP_024303150.1:n.-143_-142del
XR_001746160.2:n.1159_1160del
XR_001746162.2:n.1225_1226del
XR_001746164.1:n.942_943del
XR_001746166.2:n.1376_1377del
NM_001077365.2:c.989_990del MANE Select NP_001070833.1:p.Tyr330Ter
NM_001077366.2:c.827_828del NP_001070834.1:p.Tyr276Ter
NM_001136113.2:c.989_990del NP_001129585.1:p.Tyr330Ter
NM_001136114.2:c.638_639del NP_001129586.1:p.Tyr213Ter
NM_001353193.2:c.1055_1056del NP_001340122.2:p.Tyr352Ter
NM_001353194.2:c.827_828del NP_001340123.1:p.Tyr276Ter
NM_001353195.2:c.638_639del NP_001340124.1:p.Tyr213Ter
NM_001353196.2:c.899_900del NP_001340125.1:p.Tyr300Ter
NM_001353197.2:c.893_894del NP_001340126.2:p.Tyr298Ter
NM_001353198.2:c.893_894del NP_001340127.2:p.Tyr298Ter
NM_001353199.2:c.704_705del NP_001340128.2:p.Tyr235Ter
NM_001353200.2:c.533_534del NP_001340129.1:p.Tyr178Ter
NM_001374689.1:c.977_978del NP_001361618.1:p.Tyr326Ter
NM_001374690.1:c.989_990del NP_001361619.1:p.Tyr330Ter
NM_001374691.1:c.638_639del NP_001361620.1:p.Tyr213Ter
NM_001374692.1:c.638_639del NP_001361621.1:p.Tyr213Ter
NM_001374693.1:c.824+576_824+577del NP_001361622.1:n.824+576_824+577del
NM_001374695.1:c.599_600del NP_001361624.1:p.Tyr200Ter
NM_007171.4:c.1055_1056del NP_009102.4:p.Tyr352Ter
NR_148391.2:n.1023_1024del
NR_148392.2:n.1241_1242del
NR_148393.2:n.1023_1024del
NR_148394.2:n.916_917del
NR_148395.2:n.1175_1176del
NR_148396.2:n.809_810del
NR_148397.2:n.1073_1074del
NR_148398.2:n.1028_1029del
NR_148399.2:n.1415_1416del
NR_148400.2:n.1014_1015del