Canonical Allele Identifier: CA918567157
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1564366953

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515791_131515792del , CM000671.2:g.131515791_131515792del GRCh38
NC_000009.11:g.134391178_134391179del , CM000671.1:g.134391178_134391179del GRCh37
NC_000009.10:g.133380999_133381000del NCBI36
NG_008896.1:g.17890_17891del
NG_008896.2:g.17890_17891del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+269_1110+270del ENSP00000343034.7:n.1110+269_1110+270del
ENST00000404875.7:n.1812+269_1812+270del
ENST00000423007.6:c.1329+269_1329+270del ENSP00000404119.2:n.1329+269_1329+270del
ENST00000677295.2:c.*1616+269_*1616+270del ENSP00000504346.2:n.*1616+269_*1616+270del
ENST00000678264.2:c.*1455+269_*1455+270del ENSP00000503157.2:n.*1455+269_*1455+270del
ENST00000682070.1:n.1737+269_1737+270del
ENST00000682539.1:c.97+269_97+270del
ENST00000682813.1:n.1537+269_1537+270del
ENST00000683392.1:n.4019+269_4019+270del
ENST00000683712.1:n.1677+269_1677+270del
ENST00000683900.1:n.3172+269_3172+270del
ENST00000684062.1:n.1938+269_1938+270del
ENST00000684579.1:n.3118+269_3118+270del
ENST00000341012.12:c.1110+269_1110+270del ENSP00000343034.7:n.1110+269_1110+270del
ENST00000372220.5:c.141+269_141+270del ENSP00000361294.5:n.141+269_141+270del
ENST00000372228.9:c.1338+269_1338+270del ENSP00000361302.3:n.1338+269_1338+270del
ENST00000402686.8:c.1272+269_1272+270del MANE Select ENSP00000385797.4:n.1272+269_1272+270del
ENST00000676640.1:c.1272+269_1272+270del ENSP00000503281.1:n.1272+269_1272+270del
ENST00000676803.1:c.447+269_447+270del ENSP00000503093.1:n.447+269_447+270del
ENST00000676835.1:c.*487+269_*487+270del ENSP00000502911.1:n.*487+269_*487+270del
ENST00000677029.1:c.816+269_816+270del ENSP00000502936.1:n.816+269_816+270del
ENST00000677099.1:c.*982+269_*982+270del ENSP00000504553.1:n.*982+269_*982+270del
ENST00000677216.1:c.921+269_921+270del ENSP00000503772.1:n.921+269_921+270del
ENST00000677295.1:c.*649+269_*649+270del ENSP00000504346.1:n.*649+269_*649+270del
ENST00000677444.1:c.1078+269_1078+270del
ENST00000677586.1:n.753+269_753+270del
ENST00000677626.1:c.921+269_921+270del ENSP00000503552.1:n.921+269_921+270del
ENST00000677677.1:n.1232+269_1232+270del
ENST00000677853.1:c.*280+269_*280+270del ENSP00000503488.1:n.*280+269_*280+270del
ENST00000677944.1:c.534+269_534+270del
ENST00000678264.1:c.*649+269_*649+270del ENSP00000503157.1:n.*649+269_*649+270del
ENST00000678303.1:c.1182+269_1182+270del ENSP00000503696.1:n.1182+269_1182+270del
ENST00000678366.1:c.*1521+269_*1521+270del ENSP00000504353.1:n.*1521+269_*1521+270del
ENST00000678546.1:c.*1217+269_*1217+270del ENSP00000503062.1:n.*1217+269_*1217+270del
ENST00000678548.1:c.*1344+269_*1344+270del ENSP00000503934.1:n.*1344+269_*1344+270del
ENST00000678626.1:n.969+269_969+270del
ENST00000678733.1:c.353+269_353+270del
ENST00000678739.1:c.*1598+269_*1598+270del ENSP00000503806.1:n.*1598+269_*1598+270del
ENST00000678795.1:n.359+269_359+270del
ENST00000678833.1:c.*719+269_*719+270del ENSP00000503893.1:n.*719+269_*719+270del
ENST00000678942.1:c.452+269_452+270del ENSP00000504690.1:n.452+269_452+270del
ENST00000679023.1:c.1110+269_1110+270del ENSP00000503718.1:n.1110+269_1110+270del
ENST00000679076.1:c.891+269_891+270del
ENST00000679111.1:c.1272+269_1272+270del ENSP00000504257.1:n.1272+269_1272+270del
ENST00000679189.1:c.921+269_921+270del ENSP00000503356.1:n.921+269_921+270del
ENST00000341012.11:c.1110+269_1110+270del ENSP00000343034.7:n.1110+269_1110+270del
ENST00000372228.7:c.1338+269_1338+270del ENSP00000361302.3:n.1338+269_1338+270del
ENST00000402686.7:c.1272+269_1272+270del ENSP00000385797.3:n.1272+269_1272+270del
ENST00000404875.6:c.921+269_921+270del ENSP00000384531.2:n.921+269_921+270del
ENST00000423007.5:c.1272+269_1272+270del ENSP00000404119.1:n.1272+269_1272+270del
ENST00000485278.5:n.1827+269_1827+270del
NM_001077365.1:c.1272+269_1272+270del NP_001070833.1:n.1272+269_1272+270del
NM_001077366.1:c.1110+269_1110+270del NP_001070834.1:n.1110+269_1110+270del
NM_001136113.1:c.1272+269_1272+270del NP_001129585.1:n.1272+269_1272+270del
NM_001136114.1:c.921+269_921+270del NP_001129586.1:n.921+269_921+270del
NM_007171.3:c.1338+269_1338+270del NP_009102.3:n.1338+269_1338+270del
XM_005272156.1:c.1338+269_1338+270del XP_005272213.1:n.1338+269_1338+270del
XM_005272158.1:c.1176+269_1176+270del XP_005272215.1:n.1176+269_1176+270del
XM_005272159.1:c.987+269_987+270del XP_005272216.1:n.987+269_987+270del
XM_005272162.1:c.141+269_141+270del XP_005272219.1:n.141+269_141+270del
XM_006716932.1:c.987+269_987+270del XP_006716995.1:n.987+269_987+270del
XM_011518140.1:c.1191+269_1191+270del XP_011516442.1:n.1191+269_1191+270del
XM_011518141.1:c.1125+269_1125+270del XP_011516443.1:n.1125+269_1125+270del
XM_011518142.1:c.1029+269_1029+270del XP_011516444.1:n.1029+269_1029+270del
XM_011518143.1:c.1023+269_1023+270del XP_011516445.1:n.1023+269_1023+270del
XM_011518144.1:c.1338+269_1338+270del XP_011516446.1:n.1338+269_1338+270del
XM_011518145.1:c.882+269_882+270del XP_011516447.1:n.882+269_882+270del
XM_011518146.1:c.1023+269_1023+270del XP_011516448.1:n.1023+269_1023+270del
XR_929703.1:n.1514+269_1514+270del
NM_001353193.1:c.1338+269_1338+270del NP_001340122.1:n.1338+269_1338+270del
NM_001353194.1:c.1110+269_1110+270del NP_001340123.1:n.1110+269_1110+270del
NM_001353195.1:c.921+269_921+270del NP_001340124.1:n.921+269_921+270del
NM_001353196.1:c.1182+269_1182+270del NP_001340125.1:n.1182+269_1182+270del
NM_001353197.1:c.1176+269_1176+270del NP_001340126.1:n.1176+269_1176+270del
NM_001353198.1:c.1176+269_1176+270del NP_001340127.1:n.1176+269_1176+270del
NM_001353199.1:c.987+269_987+270del NP_001340128.1:n.987+269_987+270del
NM_001353200.1:c.816+269_816+270del NP_001340129.1:n.816+269_816+270del
NR_148391.1:n.1322+269_1322+270del
NR_148392.1:n.1540+269_1540+270del
NR_148393.1:n.1322+269_1322+270del
NR_148394.1:n.1215+269_1215+270del
NR_148395.1:n.1474+269_1474+270del
NR_148396.1:n.1108+269_1108+270del
NR_148397.1:n.1372+269_1372+270del
NR_148398.1:n.1327+269_1327+270del
NR_148399.1:n.1714+269_1714+270del
NR_148400.1:n.1313+269_1313+270del
XM_005272162.3:c.141+269_141+270del XP_005272219.1:n.141+269_141+270del
XM_006716932.2:c.987+269_987+270del XP_006716995.1:n.987+269_987+270del
XM_011518140.2:c.1191+269_1191+270del XP_011516442.1:n.1191+269_1191+270del
XM_011518141.2:c.1125+269_1125+270del XP_011516443.1:n.1125+269_1125+270del
XM_011518142.2:c.1029+269_1029+270del XP_011516444.1:n.1029+269_1029+270del
XM_011518143.2:c.1023+269_1023+270del XP_011516445.1:n.1023+269_1023+270del
XM_011518145.2:c.882+269_882+270del XP_011516447.1:n.882+269_882+270del
XM_017014205.2:c.141+269_141+270del XP_016869694.1:n.141+269_141+270del
XM_024447380.1:c.141+269_141+270del XP_024303148.1:n.141+269_141+270del
XM_024447381.1:c.447+269_447+270del XP_024303149.1:n.447+269_447+270del
XM_024447382.1:c.141+269_141+270del XP_024303150.1:n.141+269_141+270del
XR_001746160.2:n.1442+269_1442+270del
XR_001746162.2:n.1508+269_1508+270del
XR_001746164.1:n.1225+269_1225+270del
XR_001746166.2:n.1659+269_1659+270del
NM_001077365.2:c.1272+269_1272+270del MANE Select NP_001070833.1:n.1272+269_1272+270del
NM_001077366.2:c.1110+269_1110+270del NP_001070834.1:n.1110+269_1110+270del
NM_001136113.2:c.1272+269_1272+270del NP_001129585.1:n.1272+269_1272+270del
NM_001136114.2:c.921+269_921+270del NP_001129586.1:n.921+269_921+270del
NM_001353193.2:c.1338+269_1338+270del NP_001340122.2:n.1338+269_1338+270del
NM_001353194.2:c.1110+269_1110+270del NP_001340123.1:n.1110+269_1110+270del
NM_001353195.2:c.921+269_921+270del NP_001340124.1:n.921+269_921+270del
NM_001353196.2:c.1182+269_1182+270del NP_001340125.1:n.1182+269_1182+270del
NM_001353197.2:c.1176+269_1176+270del NP_001340126.2:n.1176+269_1176+270del
NM_001353198.2:c.1176+269_1176+270del NP_001340127.2:n.1176+269_1176+270del
NM_001353199.2:c.987+269_987+270del NP_001340128.2:n.987+269_987+270del
NM_001353200.2:c.816+269_816+270del NP_001340129.1:n.816+269_816+270del
NM_001374689.1:c.1260+269_1260+270del NP_001361618.1:n.1260+269_1260+270del
NM_001374690.1:c.1272+269_1272+270del NP_001361619.1:n.1272+269_1272+270del
NM_001374691.1:c.921+269_921+270del NP_001361620.1:n.921+269_921+270del
NM_001374692.1:c.921+269_921+270del NP_001361621.1:n.921+269_921+270del
NM_001374693.1:c.921+269_921+270del NP_001361622.1:n.921+269_921+270del
NM_001374695.1:c.882+269_882+270del NP_001361624.1:n.882+269_882+270del
NM_007171.4:c.1338+269_1338+270del NP_009102.4:n.1338+269_1338+270del
NR_148391.2:n.1306+269_1306+270del
NR_148392.2:n.1524+269_1524+270del
NR_148393.2:n.1306+269_1306+270del
NR_148394.2:n.1199+269_1199+270del
NR_148395.2:n.1458+269_1458+270del
NR_148396.2:n.1092+269_1092+270del
NR_148397.2:n.1356+269_1356+270del
NR_148398.2:n.1311+269_1311+270del
NR_148399.2:n.1698+269_1698+270del
NR_148400.2:n.1297+269_1297+270del