Canonical Allele Identifier: CA2786114481
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515750_131515801del , CM000671.2:g.131515750_131515801del GRCh38
NC_000009.11:g.134391137_134391188del , CM000671.1:g.134391137_134391188del GRCh37
NC_000009.10:g.133380958_133381009del NCBI36
NG_008896.1:g.17849_17900del
NG_008896.2:g.17849_17900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+228_1110+279del ENSP00000343034.7:n.1110+228_1110+279del
ENST00000404875.7:n.1812+228_1812+279del
ENST00000423007.6:c.1329+228_1329+279del ENSP00000404119.2:n.1329+228_1329+279del
ENST00000677295.2:c.*1616+228_*1616+279del ENSP00000504346.2:n.*1616+228_*1616+279del
ENST00000678264.2:c.*1455+228_*1455+279del ENSP00000503157.2:n.*1455+228_*1455+279del
ENST00000682070.1:n.1737+228_1737+279del
ENST00000682539.1:c.97+228_97+279del
ENST00000682813.1:n.1537+228_1537+279del
ENST00000683392.1:n.4019+228_4019+279del
ENST00000683712.1:n.1677+228_1677+279del
ENST00000683900.1:n.3172+228_3172+279del
ENST00000684062.1:n.1938+228_1938+279del
ENST00000684579.1:n.3118+228_3118+279del
ENST00000341012.12:c.1110+228_1110+279del ENSP00000343034.7:n.1110+228_1110+279del
ENST00000372220.5:c.141+228_141+279del ENSP00000361294.5:n.141+228_141+279del
ENST00000372228.9:c.1338+228_1338+279del ENSP00000361302.3:n.1338+228_1338+279del
ENST00000402686.8:c.1272+228_1272+279del MANE Select ENSP00000385797.4:n.1272+228_1272+279del
ENST00000676640.1:c.1272+228_1272+279del ENSP00000503281.1:n.1272+228_1272+279del
ENST00000676803.1:c.447+228_447+279del ENSP00000503093.1:n.447+228_447+279del
ENST00000676835.1:c.*487+228_*487+279del ENSP00000502911.1:n.*487+228_*487+279del
ENST00000677029.1:c.816+228_816+279del ENSP00000502936.1:n.816+228_816+279del
ENST00000677099.1:c.*982+228_*982+279del ENSP00000504553.1:n.*982+228_*982+279del
ENST00000677216.1:c.921+228_921+279del ENSP00000503772.1:n.921+228_921+279del
ENST00000677295.1:c.*649+228_*649+279del ENSP00000504346.1:n.*649+228_*649+279del
ENST00000677444.1:c.1078+228_1078+279del
ENST00000677586.1:n.753+228_753+279del
ENST00000677626.1:c.921+228_921+279del ENSP00000503552.1:n.921+228_921+279del
ENST00000677677.1:n.1232+228_1232+279del
ENST00000677853.1:c.*280+228_*280+279del ENSP00000503488.1:n.*280+228_*280+279del
ENST00000677944.1:c.534+228_534+279del
ENST00000678264.1:c.*649+228_*649+279del ENSP00000503157.1:n.*649+228_*649+279del
ENST00000678303.1:c.1182+228_1182+279del ENSP00000503696.1:n.1182+228_1182+279del
ENST00000678366.1:c.*1521+228_*1521+279del ENSP00000504353.1:n.*1521+228_*1521+279del
ENST00000678546.1:c.*1217+228_*1217+279del ENSP00000503062.1:n.*1217+228_*1217+279del
ENST00000678548.1:c.*1344+228_*1344+279del ENSP00000503934.1:n.*1344+228_*1344+279del
ENST00000678626.1:n.969+228_969+279del
ENST00000678733.1:c.353+228_353+279del
ENST00000678739.1:c.*1598+228_*1598+279del ENSP00000503806.1:n.*1598+228_*1598+279del
ENST00000678795.1:n.359+228_359+279del
ENST00000678833.1:c.*719+228_*719+279del ENSP00000503893.1:n.*719+228_*719+279del
ENST00000678942.1:c.452+228_452+279del ENSP00000504690.1:n.452+228_452+279del
ENST00000679023.1:c.1110+228_1110+279del ENSP00000503718.1:n.1110+228_1110+279del
ENST00000679076.1:c.891+228_891+279del
ENST00000679111.1:c.1272+228_1272+279del ENSP00000504257.1:n.1272+228_1272+279del
ENST00000679189.1:c.921+228_921+279del ENSP00000503356.1:n.921+228_921+279del
ENST00000341012.11:c.1110+228_1110+279del ENSP00000343034.7:n.1110+228_1110+279del
ENST00000372228.7:c.1338+228_1338+279del ENSP00000361302.3:n.1338+228_1338+279del
ENST00000402686.7:c.1272+228_1272+279del ENSP00000385797.3:n.1272+228_1272+279del
ENST00000404875.6:c.921+228_921+279del ENSP00000384531.2:n.921+228_921+279del
ENST00000423007.5:c.1272+228_1272+279del ENSP00000404119.1:n.1272+228_1272+279del
ENST00000485278.5:n.1827+228_1827+279del
NM_001077365.1:c.1272+228_1272+279del NP_001070833.1:n.1272+228_1272+279del
NM_001077366.1:c.1110+228_1110+279del NP_001070834.1:n.1110+228_1110+279del
NM_001136113.1:c.1272+228_1272+279del NP_001129585.1:n.1272+228_1272+279del
NM_001136114.1:c.921+228_921+279del NP_001129586.1:n.921+228_921+279del
NM_007171.3:c.1338+228_1338+279del NP_009102.3:n.1338+228_1338+279del
XM_005272156.1:c.1338+228_1338+279del XP_005272213.1:n.1338+228_1338+279del
XM_005272158.1:c.1176+228_1176+279del XP_005272215.1:n.1176+228_1176+279del
XM_005272159.1:c.987+228_987+279del XP_005272216.1:n.987+228_987+279del
XM_005272162.1:c.141+228_141+279del XP_005272219.1:n.141+228_141+279del
XM_006716932.1:c.987+228_987+279del XP_006716995.1:n.987+228_987+279del
XM_011518140.1:c.1191+228_1191+279del XP_011516442.1:n.1191+228_1191+279del
XM_011518141.1:c.1125+228_1125+279del XP_011516443.1:n.1125+228_1125+279del
XM_011518142.1:c.1029+228_1029+279del XP_011516444.1:n.1029+228_1029+279del
XM_011518143.1:c.1023+228_1023+279del XP_011516445.1:n.1023+228_1023+279del
XM_011518144.1:c.1338+228_1338+279del XP_011516446.1:n.1338+228_1338+279del
XM_011518145.1:c.882+228_882+279del XP_011516447.1:n.882+228_882+279del
XM_011518146.1:c.1023+228_1023+279del XP_011516448.1:n.1023+228_1023+279del
XR_929703.1:n.1514+228_1514+279del
NM_001353193.1:c.1338+228_1338+279del NP_001340122.1:n.1338+228_1338+279del
NM_001353194.1:c.1110+228_1110+279del NP_001340123.1:n.1110+228_1110+279del
NM_001353195.1:c.921+228_921+279del NP_001340124.1:n.921+228_921+279del
NM_001353196.1:c.1182+228_1182+279del NP_001340125.1:n.1182+228_1182+279del
NM_001353197.1:c.1176+228_1176+279del NP_001340126.1:n.1176+228_1176+279del
NM_001353198.1:c.1176+228_1176+279del NP_001340127.1:n.1176+228_1176+279del
NM_001353199.1:c.987+228_987+279del NP_001340128.1:n.987+228_987+279del
NM_001353200.1:c.816+228_816+279del NP_001340129.1:n.816+228_816+279del
NR_148391.1:n.1322+228_1322+279del
NR_148392.1:n.1540+228_1540+279del
NR_148393.1:n.1322+228_1322+279del
NR_148394.1:n.1215+228_1215+279del
NR_148395.1:n.1474+228_1474+279del
NR_148396.1:n.1108+228_1108+279del
NR_148397.1:n.1372+228_1372+279del
NR_148398.1:n.1327+228_1327+279del
NR_148399.1:n.1714+228_1714+279del
NR_148400.1:n.1313+228_1313+279del
XM_005272162.3:c.141+228_141+279del XP_005272219.1:n.141+228_141+279del
XM_006716932.2:c.987+228_987+279del XP_006716995.1:n.987+228_987+279del
XM_011518140.2:c.1191+228_1191+279del XP_011516442.1:n.1191+228_1191+279del
XM_011518141.2:c.1125+228_1125+279del XP_011516443.1:n.1125+228_1125+279del
XM_011518142.2:c.1029+228_1029+279del XP_011516444.1:n.1029+228_1029+279del
XM_011518143.2:c.1023+228_1023+279del XP_011516445.1:n.1023+228_1023+279del
XM_011518145.2:c.882+228_882+279del XP_011516447.1:n.882+228_882+279del
XM_017014205.2:c.141+228_141+279del XP_016869694.1:n.141+228_141+279del
XM_024447380.1:c.141+228_141+279del XP_024303148.1:n.141+228_141+279del
XM_024447381.1:c.447+228_447+279del XP_024303149.1:n.447+228_447+279del
XM_024447382.1:c.141+228_141+279del XP_024303150.1:n.141+228_141+279del
XR_001746160.2:n.1442+228_1442+279del
XR_001746162.2:n.1508+228_1508+279del
XR_001746164.1:n.1225+228_1225+279del
XR_001746166.2:n.1659+228_1659+279del
NM_001077365.2:c.1272+228_1272+279del MANE Select NP_001070833.1:n.1272+228_1272+279del
NM_001077366.2:c.1110+228_1110+279del NP_001070834.1:n.1110+228_1110+279del
NM_001136113.2:c.1272+228_1272+279del NP_001129585.1:n.1272+228_1272+279del
NM_001136114.2:c.921+228_921+279del NP_001129586.1:n.921+228_921+279del
NM_001353193.2:c.1338+228_1338+279del NP_001340122.2:n.1338+228_1338+279del
NM_001353194.2:c.1110+228_1110+279del NP_001340123.1:n.1110+228_1110+279del
NM_001353195.2:c.921+228_921+279del NP_001340124.1:n.921+228_921+279del
NM_001353196.2:c.1182+228_1182+279del NP_001340125.1:n.1182+228_1182+279del
NM_001353197.2:c.1176+228_1176+279del NP_001340126.2:n.1176+228_1176+279del
NM_001353198.2:c.1176+228_1176+279del NP_001340127.2:n.1176+228_1176+279del
NM_001353199.2:c.987+228_987+279del NP_001340128.2:n.987+228_987+279del
NM_001353200.2:c.816+228_816+279del NP_001340129.1:n.816+228_816+279del
NM_001374689.1:c.1260+228_1260+279del NP_001361618.1:n.1260+228_1260+279del
NM_001374690.1:c.1272+228_1272+279del NP_001361619.1:n.1272+228_1272+279del
NM_001374691.1:c.921+228_921+279del NP_001361620.1:n.921+228_921+279del
NM_001374692.1:c.921+228_921+279del NP_001361621.1:n.921+228_921+279del
NM_001374693.1:c.921+228_921+279del NP_001361622.1:n.921+228_921+279del
NM_001374695.1:c.882+228_882+279del NP_001361624.1:n.882+228_882+279del
NM_007171.4:c.1338+228_1338+279del NP_009102.4:n.1338+228_1338+279del
NR_148391.2:n.1306+228_1306+279del
NR_148392.2:n.1524+228_1524+279del
NR_148393.2:n.1306+228_1306+279del
NR_148394.2:n.1199+228_1199+279del
NR_148395.2:n.1458+228_1458+279del
NR_148396.2:n.1092+228_1092+279del
NR_148397.2:n.1356+228_1356+279del
NR_148398.2:n.1311+228_1311+279del
NR_148399.2:n.1698+228_1698+279del
NR_148400.2:n.1297+228_1297+279del