Canonical Allele Identifier: CA2524691972
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515756_131515793del , CM000671.2:g.131515756_131515793del GRCh38
NC_000009.11:g.134391143_134391180del , CM000671.1:g.134391143_134391180del GRCh37
NC_000009.10:g.133380964_133381001del NCBI36
NG_008896.1:g.17855_17892del
NG_008896.2:g.17855_17892del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+234_1110+271del ENSP00000343034.7:n.1110+234_1110+271del
ENST00000404875.7:n.1812+234_1812+271del
ENST00000423007.6:c.1329+234_1329+271del ENSP00000404119.2:n.1329+234_1329+271del
ENST00000677295.2:c.*1616+234_*1616+271del ENSP00000504346.2:n.*1616+234_*1616+271del
ENST00000678264.2:c.*1455+234_*1455+271del ENSP00000503157.2:n.*1455+234_*1455+271del
ENST00000682070.1:n.1737+234_1737+271del
ENST00000682539.1:c.97+234_97+271del
ENST00000682813.1:n.1537+234_1537+271del
ENST00000683392.1:n.4019+234_4019+271del
ENST00000683712.1:n.1677+234_1677+271del
ENST00000683900.1:n.3172+234_3172+271del
ENST00000684062.1:n.1938+234_1938+271del
ENST00000684579.1:n.3118+234_3118+271del
ENST00000341012.12:c.1110+234_1110+271del ENSP00000343034.7:n.1110+234_1110+271del
ENST00000372220.5:c.141+234_141+271del ENSP00000361294.5:n.141+234_141+271del
ENST00000372228.9:c.1338+234_1338+271del ENSP00000361302.3:n.1338+234_1338+271del
ENST00000402686.8:c.1272+234_1272+271del MANE Select ENSP00000385797.4:n.1272+234_1272+271del
ENST00000676640.1:c.1272+234_1272+271del ENSP00000503281.1:n.1272+234_1272+271del
ENST00000676803.1:c.447+234_447+271del ENSP00000503093.1:n.447+234_447+271del
ENST00000676835.1:c.*487+234_*487+271del ENSP00000502911.1:n.*487+234_*487+271del
ENST00000677029.1:c.816+234_816+271del ENSP00000502936.1:n.816+234_816+271del
ENST00000677099.1:c.*982+234_*982+271del ENSP00000504553.1:n.*982+234_*982+271del
ENST00000677216.1:c.921+234_921+271del ENSP00000503772.1:n.921+234_921+271del
ENST00000677295.1:c.*649+234_*649+271del ENSP00000504346.1:n.*649+234_*649+271del
ENST00000677444.1:c.1078+234_1078+271del
ENST00000677586.1:n.753+234_753+271del
ENST00000677626.1:c.921+234_921+271del ENSP00000503552.1:n.921+234_921+271del
ENST00000677677.1:n.1232+234_1232+271del
ENST00000677853.1:c.*280+234_*280+271del ENSP00000503488.1:n.*280+234_*280+271del
ENST00000677944.1:c.534+234_534+271del
ENST00000678264.1:c.*649+234_*649+271del ENSP00000503157.1:n.*649+234_*649+271del
ENST00000678303.1:c.1182+234_1182+271del ENSP00000503696.1:n.1182+234_1182+271del
ENST00000678366.1:c.*1521+234_*1521+271del ENSP00000504353.1:n.*1521+234_*1521+271del
ENST00000678546.1:c.*1217+234_*1217+271del ENSP00000503062.1:n.*1217+234_*1217+271del
ENST00000678548.1:c.*1344+234_*1344+271del ENSP00000503934.1:n.*1344+234_*1344+271del
ENST00000678626.1:n.969+234_969+271del
ENST00000678733.1:c.353+234_353+271del
ENST00000678739.1:c.*1598+234_*1598+271del ENSP00000503806.1:n.*1598+234_*1598+271del
ENST00000678795.1:n.359+234_359+271del
ENST00000678833.1:c.*719+234_*719+271del ENSP00000503893.1:n.*719+234_*719+271del
ENST00000678942.1:c.452+234_452+271del ENSP00000504690.1:n.452+234_452+271del
ENST00000679023.1:c.1110+234_1110+271del ENSP00000503718.1:n.1110+234_1110+271del
ENST00000679076.1:c.891+234_891+271del
ENST00000679111.1:c.1272+234_1272+271del ENSP00000504257.1:n.1272+234_1272+271del
ENST00000679189.1:c.921+234_921+271del ENSP00000503356.1:n.921+234_921+271del
ENST00000341012.11:c.1110+234_1110+271del ENSP00000343034.7:n.1110+234_1110+271del
ENST00000372228.7:c.1338+234_1338+271del ENSP00000361302.3:n.1338+234_1338+271del
ENST00000402686.7:c.1272+234_1272+271del ENSP00000385797.3:n.1272+234_1272+271del
ENST00000404875.6:c.921+234_921+271del ENSP00000384531.2:n.921+234_921+271del
ENST00000423007.5:c.1272+234_1272+271del ENSP00000404119.1:n.1272+234_1272+271del
ENST00000485278.5:n.1827+234_1827+271del
NM_001077365.1:c.1272+234_1272+271del NP_001070833.1:n.1272+234_1272+271del
NM_001077366.1:c.1110+234_1110+271del NP_001070834.1:n.1110+234_1110+271del
NM_001136113.1:c.1272+234_1272+271del NP_001129585.1:n.1272+234_1272+271del
NM_001136114.1:c.921+234_921+271del NP_001129586.1:n.921+234_921+271del
NM_007171.3:c.1338+234_1338+271del NP_009102.3:n.1338+234_1338+271del
XM_005272156.1:c.1338+234_1338+271del XP_005272213.1:n.1338+234_1338+271del
XM_005272158.1:c.1176+234_1176+271del XP_005272215.1:n.1176+234_1176+271del
XM_005272159.1:c.987+234_987+271del XP_005272216.1:n.987+234_987+271del
XM_005272162.1:c.141+234_141+271del XP_005272219.1:n.141+234_141+271del
XM_006716932.1:c.987+234_987+271del XP_006716995.1:n.987+234_987+271del
XM_011518140.1:c.1191+234_1191+271del XP_011516442.1:n.1191+234_1191+271del
XM_011518141.1:c.1125+234_1125+271del XP_011516443.1:n.1125+234_1125+271del
XM_011518142.1:c.1029+234_1029+271del XP_011516444.1:n.1029+234_1029+271del
XM_011518143.1:c.1023+234_1023+271del XP_011516445.1:n.1023+234_1023+271del
XM_011518144.1:c.1338+234_1338+271del XP_011516446.1:n.1338+234_1338+271del
XM_011518145.1:c.882+234_882+271del XP_011516447.1:n.882+234_882+271del
XM_011518146.1:c.1023+234_1023+271del XP_011516448.1:n.1023+234_1023+271del
XR_929703.1:n.1514+234_1514+271del
NM_001353193.1:c.1338+234_1338+271del NP_001340122.1:n.1338+234_1338+271del
NM_001353194.1:c.1110+234_1110+271del NP_001340123.1:n.1110+234_1110+271del
NM_001353195.1:c.921+234_921+271del NP_001340124.1:n.921+234_921+271del
NM_001353196.1:c.1182+234_1182+271del NP_001340125.1:n.1182+234_1182+271del
NM_001353197.1:c.1176+234_1176+271del NP_001340126.1:n.1176+234_1176+271del
NM_001353198.1:c.1176+234_1176+271del NP_001340127.1:n.1176+234_1176+271del
NM_001353199.1:c.987+234_987+271del NP_001340128.1:n.987+234_987+271del
NM_001353200.1:c.816+234_816+271del NP_001340129.1:n.816+234_816+271del
NR_148391.1:n.1322+234_1322+271del
NR_148392.1:n.1540+234_1540+271del
NR_148393.1:n.1322+234_1322+271del
NR_148394.1:n.1215+234_1215+271del
NR_148395.1:n.1474+234_1474+271del
NR_148396.1:n.1108+234_1108+271del
NR_148397.1:n.1372+234_1372+271del
NR_148398.1:n.1327+234_1327+271del
NR_148399.1:n.1714+234_1714+271del
NR_148400.1:n.1313+234_1313+271del
XM_005272162.3:c.141+234_141+271del XP_005272219.1:n.141+234_141+271del
XM_006716932.2:c.987+234_987+271del XP_006716995.1:n.987+234_987+271del
XM_011518140.2:c.1191+234_1191+271del XP_011516442.1:n.1191+234_1191+271del
XM_011518141.2:c.1125+234_1125+271del XP_011516443.1:n.1125+234_1125+271del
XM_011518142.2:c.1029+234_1029+271del XP_011516444.1:n.1029+234_1029+271del
XM_011518143.2:c.1023+234_1023+271del XP_011516445.1:n.1023+234_1023+271del
XM_011518145.2:c.882+234_882+271del XP_011516447.1:n.882+234_882+271del
XM_017014205.2:c.141+234_141+271del XP_016869694.1:n.141+234_141+271del
XM_024447380.1:c.141+234_141+271del XP_024303148.1:n.141+234_141+271del
XM_024447381.1:c.447+234_447+271del XP_024303149.1:n.447+234_447+271del
XM_024447382.1:c.141+234_141+271del XP_024303150.1:n.141+234_141+271del
XR_001746160.2:n.1442+234_1442+271del
XR_001746162.2:n.1508+234_1508+271del
XR_001746164.1:n.1225+234_1225+271del
XR_001746166.2:n.1659+234_1659+271del
NM_001077365.2:c.1272+234_1272+271del MANE Select NP_001070833.1:n.1272+234_1272+271del
NM_001077366.2:c.1110+234_1110+271del NP_001070834.1:n.1110+234_1110+271del
NM_001136113.2:c.1272+234_1272+271del NP_001129585.1:n.1272+234_1272+271del
NM_001136114.2:c.921+234_921+271del NP_001129586.1:n.921+234_921+271del
NM_001353193.2:c.1338+234_1338+271del NP_001340122.2:n.1338+234_1338+271del
NM_001353194.2:c.1110+234_1110+271del NP_001340123.1:n.1110+234_1110+271del
NM_001353195.2:c.921+234_921+271del NP_001340124.1:n.921+234_921+271del
NM_001353196.2:c.1182+234_1182+271del NP_001340125.1:n.1182+234_1182+271del
NM_001353197.2:c.1176+234_1176+271del NP_001340126.2:n.1176+234_1176+271del
NM_001353198.2:c.1176+234_1176+271del NP_001340127.2:n.1176+234_1176+271del
NM_001353199.2:c.987+234_987+271del NP_001340128.2:n.987+234_987+271del
NM_001353200.2:c.816+234_816+271del NP_001340129.1:n.816+234_816+271del
NM_001374689.1:c.1260+234_1260+271del NP_001361618.1:n.1260+234_1260+271del
NM_001374690.1:c.1272+234_1272+271del NP_001361619.1:n.1272+234_1272+271del
NM_001374691.1:c.921+234_921+271del NP_001361620.1:n.921+234_921+271del
NM_001374692.1:c.921+234_921+271del NP_001361621.1:n.921+234_921+271del
NM_001374693.1:c.921+234_921+271del NP_001361622.1:n.921+234_921+271del
NM_001374695.1:c.882+234_882+271del NP_001361624.1:n.882+234_882+271del
NM_007171.4:c.1338+234_1338+271del NP_009102.4:n.1338+234_1338+271del
NR_148391.2:n.1306+234_1306+271del
NR_148392.2:n.1524+234_1524+271del
NR_148393.2:n.1306+234_1306+271del
NR_148394.2:n.1199+234_1199+271del
NR_148395.2:n.1458+234_1458+271del
NR_148396.2:n.1092+234_1092+271del
NR_148397.2:n.1356+234_1356+271del
NR_148398.2:n.1311+234_1311+271del
NR_148399.2:n.1698+234_1698+271del
NR_148400.2:n.1297+234_1297+271del