Canonical Allele Identifier: CA2558663196
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515768_131515784del , CM000671.2:g.131515768_131515784del GRCh38
NC_000009.11:g.134391155_134391171del , CM000671.1:g.134391155_134391171del GRCh37
NC_000009.10:g.133380976_133380992del NCBI36
NG_008896.1:g.17867_17883del
NG_008896.2:g.17867_17883del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+246_1110+262del ENSP00000343034.7:n.1110+246_1110+262del
ENST00000404875.7:n.1812+246_1812+262del
ENST00000423007.6:c.1329+246_1329+262del ENSP00000404119.2:n.1329+246_1329+262del
ENST00000677295.2:c.*1616+246_*1616+262del ENSP00000504346.2:n.*1616+246_*1616+262del
ENST00000678264.2:c.*1455+246_*1455+262del ENSP00000503157.2:n.*1455+246_*1455+262del
ENST00000682070.1:n.1737+246_1737+262del
ENST00000682539.1:c.97+246_97+262del
ENST00000682813.1:n.1537+246_1537+262del
ENST00000683392.1:n.4019+246_4019+262del
ENST00000683712.1:n.1677+246_1677+262del
ENST00000683900.1:n.3172+246_3172+262del
ENST00000684062.1:n.1938+246_1938+262del
ENST00000684579.1:n.3118+246_3118+262del
ENST00000341012.12:c.1110+246_1110+262del ENSP00000343034.7:n.1110+246_1110+262del
ENST00000372220.5:c.141+246_141+262del ENSP00000361294.5:n.141+246_141+262del
ENST00000372228.9:c.1338+246_1338+262del ENSP00000361302.3:n.1338+246_1338+262del
ENST00000402686.8:c.1272+246_1272+262del MANE Select ENSP00000385797.4:n.1272+246_1272+262del
ENST00000676640.1:c.1272+246_1272+262del ENSP00000503281.1:n.1272+246_1272+262del
ENST00000676803.1:c.447+246_447+262del ENSP00000503093.1:n.447+246_447+262del
ENST00000676835.1:c.*487+246_*487+262del ENSP00000502911.1:n.*487+246_*487+262del
ENST00000677029.1:c.816+246_816+262del ENSP00000502936.1:n.816+246_816+262del
ENST00000677099.1:c.*982+246_*982+262del ENSP00000504553.1:n.*982+246_*982+262del
ENST00000677216.1:c.921+246_921+262del ENSP00000503772.1:n.921+246_921+262del
ENST00000677295.1:c.*649+246_*649+262del ENSP00000504346.1:n.*649+246_*649+262del
ENST00000677444.1:c.1078+246_1078+262del
ENST00000677586.1:n.753+246_753+262del
ENST00000677626.1:c.921+246_921+262del ENSP00000503552.1:n.921+246_921+262del
ENST00000677677.1:n.1232+246_1232+262del
ENST00000677853.1:c.*280+246_*280+262del ENSP00000503488.1:n.*280+246_*280+262del
ENST00000677944.1:c.534+246_534+262del
ENST00000678264.1:c.*649+246_*649+262del ENSP00000503157.1:n.*649+246_*649+262del
ENST00000678303.1:c.1182+246_1182+262del ENSP00000503696.1:n.1182+246_1182+262del
ENST00000678366.1:c.*1521+246_*1521+262del ENSP00000504353.1:n.*1521+246_*1521+262del
ENST00000678546.1:c.*1217+246_*1217+262del ENSP00000503062.1:n.*1217+246_*1217+262del
ENST00000678548.1:c.*1344+246_*1344+262del ENSP00000503934.1:n.*1344+246_*1344+262del
ENST00000678626.1:n.969+246_969+262del
ENST00000678733.1:c.353+246_353+262del
ENST00000678739.1:c.*1598+246_*1598+262del ENSP00000503806.1:n.*1598+246_*1598+262del
ENST00000678795.1:n.359+246_359+262del
ENST00000678833.1:c.*719+246_*719+262del ENSP00000503893.1:n.*719+246_*719+262del
ENST00000678942.1:c.452+246_452+262del ENSP00000504690.1:n.452+246_452+262del
ENST00000679023.1:c.1110+246_1110+262del ENSP00000503718.1:n.1110+246_1110+262del
ENST00000679076.1:c.891+246_891+262del
ENST00000679111.1:c.1272+246_1272+262del ENSP00000504257.1:n.1272+246_1272+262del
ENST00000679189.1:c.921+246_921+262del ENSP00000503356.1:n.921+246_921+262del
ENST00000341012.11:c.1110+246_1110+262del ENSP00000343034.7:n.1110+246_1110+262del
ENST00000372228.7:c.1338+246_1338+262del ENSP00000361302.3:n.1338+246_1338+262del
ENST00000402686.7:c.1272+246_1272+262del ENSP00000385797.3:n.1272+246_1272+262del
ENST00000404875.6:c.921+246_921+262del ENSP00000384531.2:n.921+246_921+262del
ENST00000423007.5:c.1272+246_1272+262del ENSP00000404119.1:n.1272+246_1272+262del
ENST00000485278.5:n.1827+246_1827+262del
NM_001077365.1:c.1272+246_1272+262del NP_001070833.1:n.1272+246_1272+262del
NM_001077366.1:c.1110+246_1110+262del NP_001070834.1:n.1110+246_1110+262del
NM_001136113.1:c.1272+246_1272+262del NP_001129585.1:n.1272+246_1272+262del
NM_001136114.1:c.921+246_921+262del NP_001129586.1:n.921+246_921+262del
NM_007171.3:c.1338+246_1338+262del NP_009102.3:n.1338+246_1338+262del
XM_005272156.1:c.1338+246_1338+262del XP_005272213.1:n.1338+246_1338+262del
XM_005272158.1:c.1176+246_1176+262del XP_005272215.1:n.1176+246_1176+262del
XM_005272159.1:c.987+246_987+262del XP_005272216.1:n.987+246_987+262del
XM_005272162.1:c.141+246_141+262del XP_005272219.1:n.141+246_141+262del
XM_006716932.1:c.987+246_987+262del XP_006716995.1:n.987+246_987+262del
XM_011518140.1:c.1191+246_1191+262del XP_011516442.1:n.1191+246_1191+262del
XM_011518141.1:c.1125+246_1125+262del XP_011516443.1:n.1125+246_1125+262del
XM_011518142.1:c.1029+246_1029+262del XP_011516444.1:n.1029+246_1029+262del
XM_011518143.1:c.1023+246_1023+262del XP_011516445.1:n.1023+246_1023+262del
XM_011518144.1:c.1338+246_1338+262del XP_011516446.1:n.1338+246_1338+262del
XM_011518145.1:c.882+246_882+262del XP_011516447.1:n.882+246_882+262del
XM_011518146.1:c.1023+246_1023+262del XP_011516448.1:n.1023+246_1023+262del
XR_929703.1:n.1514+246_1514+262del
NM_001353193.1:c.1338+246_1338+262del NP_001340122.1:n.1338+246_1338+262del
NM_001353194.1:c.1110+246_1110+262del NP_001340123.1:n.1110+246_1110+262del
NM_001353195.1:c.921+246_921+262del NP_001340124.1:n.921+246_921+262del
NM_001353196.1:c.1182+246_1182+262del NP_001340125.1:n.1182+246_1182+262del
NM_001353197.1:c.1176+246_1176+262del NP_001340126.1:n.1176+246_1176+262del
NM_001353198.1:c.1176+246_1176+262del NP_001340127.1:n.1176+246_1176+262del
NM_001353199.1:c.987+246_987+262del NP_001340128.1:n.987+246_987+262del
NM_001353200.1:c.816+246_816+262del NP_001340129.1:n.816+246_816+262del
NR_148391.1:n.1322+246_1322+262del
NR_148392.1:n.1540+246_1540+262del
NR_148393.1:n.1322+246_1322+262del
NR_148394.1:n.1215+246_1215+262del
NR_148395.1:n.1474+246_1474+262del
NR_148396.1:n.1108+246_1108+262del
NR_148397.1:n.1372+246_1372+262del
NR_148398.1:n.1327+246_1327+262del
NR_148399.1:n.1714+246_1714+262del
NR_148400.1:n.1313+246_1313+262del
XM_005272162.3:c.141+246_141+262del XP_005272219.1:n.141+246_141+262del
XM_006716932.2:c.987+246_987+262del XP_006716995.1:n.987+246_987+262del
XM_011518140.2:c.1191+246_1191+262del XP_011516442.1:n.1191+246_1191+262del
XM_011518141.2:c.1125+246_1125+262del XP_011516443.1:n.1125+246_1125+262del
XM_011518142.2:c.1029+246_1029+262del XP_011516444.1:n.1029+246_1029+262del
XM_011518143.2:c.1023+246_1023+262del XP_011516445.1:n.1023+246_1023+262del
XM_011518145.2:c.882+246_882+262del XP_011516447.1:n.882+246_882+262del
XM_017014205.2:c.141+246_141+262del XP_016869694.1:n.141+246_141+262del
XM_024447380.1:c.141+246_141+262del XP_024303148.1:n.141+246_141+262del
XM_024447381.1:c.447+246_447+262del XP_024303149.1:n.447+246_447+262del
XM_024447382.1:c.141+246_141+262del XP_024303150.1:n.141+246_141+262del
XR_001746160.2:n.1442+246_1442+262del
XR_001746162.2:n.1508+246_1508+262del
XR_001746164.1:n.1225+246_1225+262del
XR_001746166.2:n.1659+246_1659+262del
NM_001077365.2:c.1272+246_1272+262del MANE Select NP_001070833.1:n.1272+246_1272+262del
NM_001077366.2:c.1110+246_1110+262del NP_001070834.1:n.1110+246_1110+262del
NM_001136113.2:c.1272+246_1272+262del NP_001129585.1:n.1272+246_1272+262del
NM_001136114.2:c.921+246_921+262del NP_001129586.1:n.921+246_921+262del
NM_001353193.2:c.1338+246_1338+262del NP_001340122.2:n.1338+246_1338+262del
NM_001353194.2:c.1110+246_1110+262del NP_001340123.1:n.1110+246_1110+262del
NM_001353195.2:c.921+246_921+262del NP_001340124.1:n.921+246_921+262del
NM_001353196.2:c.1182+246_1182+262del NP_001340125.1:n.1182+246_1182+262del
NM_001353197.2:c.1176+246_1176+262del NP_001340126.2:n.1176+246_1176+262del
NM_001353198.2:c.1176+246_1176+262del NP_001340127.2:n.1176+246_1176+262del
NM_001353199.2:c.987+246_987+262del NP_001340128.2:n.987+246_987+262del
NM_001353200.2:c.816+246_816+262del NP_001340129.1:n.816+246_816+262del
NM_001374689.1:c.1260+246_1260+262del NP_001361618.1:n.1260+246_1260+262del
NM_001374690.1:c.1272+246_1272+262del NP_001361619.1:n.1272+246_1272+262del
NM_001374691.1:c.921+246_921+262del NP_001361620.1:n.921+246_921+262del
NM_001374692.1:c.921+246_921+262del NP_001361621.1:n.921+246_921+262del
NM_001374693.1:c.921+246_921+262del NP_001361622.1:n.921+246_921+262del
NM_001374695.1:c.882+246_882+262del NP_001361624.1:n.882+246_882+262del
NM_007171.4:c.1338+246_1338+262del NP_009102.4:n.1338+246_1338+262del
NR_148391.2:n.1306+246_1306+262del
NR_148392.2:n.1524+246_1524+262del
NR_148393.2:n.1306+246_1306+262del
NR_148394.2:n.1199+246_1199+262del
NR_148395.2:n.1458+246_1458+262del
NR_148396.2:n.1092+246_1092+262del
NR_148397.2:n.1356+246_1356+262del
NR_148398.2:n.1311+246_1311+262del
NR_148399.2:n.1698+246_1698+262del
NR_148400.2:n.1297+246_1297+262del