Canonical Allele Identifier: CA2521375405
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515775_131515882del , CM000671.2:g.131515775_131515882del GRCh38
NC_000009.11:g.134391162_134391269del , CM000671.1:g.134391162_134391269del GRCh37
NC_000009.10:g.133380983_133381090del NCBI36
NG_008896.1:g.17874_17981del
NG_008896.2:g.17874_17981del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+253_1110+360del ENSP00000343034.7:n.1110+253_1110+360del
ENST00000404875.7:n.1812+253_1812+360del
ENST00000423007.6:c.1329+253_1329+360del ENSP00000404119.2:n.1329+253_1329+360del
ENST00000677295.2:c.*1616+253_*1616+360del ENSP00000504346.2:n.*1616+253_*1616+360del
ENST00000678264.2:c.*1455+253_*1455+360del ENSP00000503157.2:n.*1455+253_*1455+360del
ENST00000682070.1:n.1737+253_1737+360del
ENST00000682539.1:c.97+253_97+360del
ENST00000682813.1:n.1537+253_1537+360del
ENST00000683392.1:n.4019+253_4019+360del
ENST00000683712.1:n.1677+253_1677+360del
ENST00000683900.1:n.3172+253_3172+360del
ENST00000684062.1:n.1938+253_1938+360del
ENST00000684579.1:n.3118+253_3118+360del
ENST00000341012.12:c.1110+253_1110+360del ENSP00000343034.7:n.1110+253_1110+360del
ENST00000372220.5:c.141+253_141+360del ENSP00000361294.5:n.141+253_141+360del
ENST00000372228.9:c.1338+253_1338+360del ENSP00000361302.3:n.1338+253_1338+360del
ENST00000402686.8:c.1272+253_1272+360del MANE Select ENSP00000385797.4:n.1272+253_1272+360del
ENST00000676640.1:c.1272+253_1272+360del ENSP00000503281.1:n.1272+253_1272+360del
ENST00000676803.1:c.447+253_447+360del ENSP00000503093.1:n.447+253_447+360del
ENST00000676835.1:c.*487+253_*487+360del ENSP00000502911.1:n.*487+253_*487+360del
ENST00000677029.1:c.816+253_816+360del ENSP00000502936.1:n.816+253_816+360del
ENST00000677099.1:c.*982+253_*982+360del ENSP00000504553.1:n.*982+253_*982+360del
ENST00000677216.1:c.921+253_921+360del ENSP00000503772.1:n.921+253_921+360del
ENST00000677295.1:c.*649+253_*649+360del ENSP00000504346.1:n.*649+253_*649+360del
ENST00000677444.1:c.1078+253_1078+360del
ENST00000677586.1:n.753+253_753+360del
ENST00000677626.1:c.921+253_921+360del ENSP00000503552.1:n.921+253_921+360del
ENST00000677677.1:n.1232+253_1232+360del
ENST00000677853.1:c.*280+253_*280+360del ENSP00000503488.1:n.*280+253_*280+360del
ENST00000677944.1:c.534+253_534+360del
ENST00000678264.1:c.*649+253_*649+360del ENSP00000503157.1:n.*649+253_*649+360del
ENST00000678303.1:c.1182+253_1182+360del ENSP00000503696.1:n.1182+253_1182+360del
ENST00000678366.1:c.*1521+253_*1521+360del ENSP00000504353.1:n.*1521+253_*1521+360del
ENST00000678546.1:c.*1217+253_*1217+360del ENSP00000503062.1:n.*1217+253_*1217+360del
ENST00000678548.1:c.*1344+253_*1344+360del ENSP00000503934.1:n.*1344+253_*1344+360del
ENST00000678626.1:n.969+253_969+360del
ENST00000678733.1:c.353+253_353+360del
ENST00000678739.1:c.*1598+253_*1598+360del ENSP00000503806.1:n.*1598+253_*1598+360del
ENST00000678795.1:n.359+253_359+360del
ENST00000678833.1:c.*719+253_*719+360del ENSP00000503893.1:n.*719+253_*719+360del
ENST00000678942.1:c.452+253_452+360del ENSP00000504690.1:n.452+253_452+360del
ENST00000679023.1:c.1110+253_1110+360del ENSP00000503718.1:n.1110+253_1110+360del
ENST00000679076.1:c.891+253_891+360del
ENST00000679111.1:c.1272+253_1272+360del ENSP00000504257.1:n.1272+253_1272+360del
ENST00000679189.1:c.921+253_921+360del ENSP00000503356.1:n.921+253_921+360del
ENST00000341012.11:c.1110+253_1110+360del ENSP00000343034.7:n.1110+253_1110+360del
ENST00000372228.7:c.1338+253_1338+360del ENSP00000361302.3:n.1338+253_1338+360del
ENST00000402686.7:c.1272+253_1272+360del ENSP00000385797.3:n.1272+253_1272+360del
ENST00000404875.6:c.921+253_921+360del ENSP00000384531.2:n.921+253_921+360del
ENST00000423007.5:c.1272+253_1272+360del ENSP00000404119.1:n.1272+253_1272+360del
ENST00000485278.5:n.1827+253_1827+360del
NM_001077365.1:c.1272+253_1272+360del NP_001070833.1:n.1272+253_1272+360del
NM_001077366.1:c.1110+253_1110+360del NP_001070834.1:n.1110+253_1110+360del
NM_001136113.1:c.1272+253_1272+360del NP_001129585.1:n.1272+253_1272+360del
NM_001136114.1:c.921+253_921+360del NP_001129586.1:n.921+253_921+360del
NM_007171.3:c.1338+253_1338+360del NP_009102.3:n.1338+253_1338+360del
XM_005272156.1:c.1338+253_1338+360del XP_005272213.1:n.1338+253_1338+360del
XM_005272158.1:c.1176+253_1176+360del XP_005272215.1:n.1176+253_1176+360del
XM_005272159.1:c.987+253_987+360del XP_005272216.1:n.987+253_987+360del
XM_005272162.1:c.141+253_141+360del XP_005272219.1:n.141+253_141+360del
XM_006716932.1:c.987+253_987+360del XP_006716995.1:n.987+253_987+360del
XM_011518140.1:c.1191+253_1191+360del XP_011516442.1:n.1191+253_1191+360del
XM_011518141.1:c.1125+253_1125+360del XP_011516443.1:n.1125+253_1125+360del
XM_011518142.1:c.1029+253_1029+360del XP_011516444.1:n.1029+253_1029+360del
XM_011518143.1:c.1023+253_1023+360del XP_011516445.1:n.1023+253_1023+360del
XM_011518144.1:c.1338+253_1338+360del XP_011516446.1:n.1338+253_1338+360del
XM_011518145.1:c.882+253_882+360del XP_011516447.1:n.882+253_882+360del
XM_011518146.1:c.1023+253_1023+360del XP_011516448.1:n.1023+253_1023+360del
XR_929703.1:n.1514+253_1514+360del
NM_001353193.1:c.1338+253_1338+360del NP_001340122.1:n.1338+253_1338+360del
NM_001353194.1:c.1110+253_1110+360del NP_001340123.1:n.1110+253_1110+360del
NM_001353195.1:c.921+253_921+360del NP_001340124.1:n.921+253_921+360del
NM_001353196.1:c.1182+253_1182+360del NP_001340125.1:n.1182+253_1182+360del
NM_001353197.1:c.1176+253_1176+360del NP_001340126.1:n.1176+253_1176+360del
NM_001353198.1:c.1176+253_1176+360del NP_001340127.1:n.1176+253_1176+360del
NM_001353199.1:c.987+253_987+360del NP_001340128.1:n.987+253_987+360del
NM_001353200.1:c.816+253_816+360del NP_001340129.1:n.816+253_816+360del
NR_148391.1:n.1322+253_1322+360del
NR_148392.1:n.1540+253_1540+360del
NR_148393.1:n.1322+253_1322+360del
NR_148394.1:n.1215+253_1215+360del
NR_148395.1:n.1474+253_1474+360del
NR_148396.1:n.1108+253_1108+360del
NR_148397.1:n.1372+253_1372+360del
NR_148398.1:n.1327+253_1327+360del
NR_148399.1:n.1714+253_1714+360del
NR_148400.1:n.1313+253_1313+360del
XM_005272162.3:c.141+253_141+360del XP_005272219.1:n.141+253_141+360del
XM_006716932.2:c.987+253_987+360del XP_006716995.1:n.987+253_987+360del
XM_011518140.2:c.1191+253_1191+360del XP_011516442.1:n.1191+253_1191+360del
XM_011518141.2:c.1125+253_1125+360del XP_011516443.1:n.1125+253_1125+360del
XM_011518142.2:c.1029+253_1029+360del XP_011516444.1:n.1029+253_1029+360del
XM_011518143.2:c.1023+253_1023+360del XP_011516445.1:n.1023+253_1023+360del
XM_011518145.2:c.882+253_882+360del XP_011516447.1:n.882+253_882+360del
XM_017014205.2:c.141+253_141+360del XP_016869694.1:n.141+253_141+360del
XM_024447380.1:c.141+253_141+360del XP_024303148.1:n.141+253_141+360del
XM_024447381.1:c.447+253_447+360del XP_024303149.1:n.447+253_447+360del
XM_024447382.1:c.141+253_141+360del XP_024303150.1:n.141+253_141+360del
XR_001746160.2:n.1442+253_1442+360del
XR_001746162.2:n.1508+253_1508+360del
XR_001746164.1:n.1225+253_1225+360del
XR_001746166.2:n.1659+253_1659+360del
NM_001077365.2:c.1272+253_1272+360del MANE Select NP_001070833.1:n.1272+253_1272+360del
NM_001077366.2:c.1110+253_1110+360del NP_001070834.1:n.1110+253_1110+360del
NM_001136113.2:c.1272+253_1272+360del NP_001129585.1:n.1272+253_1272+360del
NM_001136114.2:c.921+253_921+360del NP_001129586.1:n.921+253_921+360del
NM_001353193.2:c.1338+253_1338+360del NP_001340122.2:n.1338+253_1338+360del
NM_001353194.2:c.1110+253_1110+360del NP_001340123.1:n.1110+253_1110+360del
NM_001353195.2:c.921+253_921+360del NP_001340124.1:n.921+253_921+360del
NM_001353196.2:c.1182+253_1182+360del NP_001340125.1:n.1182+253_1182+360del
NM_001353197.2:c.1176+253_1176+360del NP_001340126.2:n.1176+253_1176+360del
NM_001353198.2:c.1176+253_1176+360del NP_001340127.2:n.1176+253_1176+360del
NM_001353199.2:c.987+253_987+360del NP_001340128.2:n.987+253_987+360del
NM_001353200.2:c.816+253_816+360del NP_001340129.1:n.816+253_816+360del
NM_001374689.1:c.1260+253_1260+360del NP_001361618.1:n.1260+253_1260+360del
NM_001374690.1:c.1272+253_1272+360del NP_001361619.1:n.1272+253_1272+360del
NM_001374691.1:c.921+253_921+360del NP_001361620.1:n.921+253_921+360del
NM_001374692.1:c.921+253_921+360del NP_001361621.1:n.921+253_921+360del
NM_001374693.1:c.921+253_921+360del NP_001361622.1:n.921+253_921+360del
NM_001374695.1:c.882+253_882+360del NP_001361624.1:n.882+253_882+360del
NM_007171.4:c.1338+253_1338+360del NP_009102.4:n.1338+253_1338+360del
NR_148391.2:n.1306+253_1306+360del
NR_148392.2:n.1524+253_1524+360del
NR_148393.2:n.1306+253_1306+360del
NR_148394.2:n.1199+253_1199+360del
NR_148395.2:n.1458+253_1458+360del
NR_148396.2:n.1092+253_1092+360del
NR_148397.2:n.1356+253_1356+360del
NR_148398.2:n.1311+253_1311+360del
NR_148399.2:n.1698+253_1698+360del
NR_148400.2:n.1297+253_1297+360del