Canonical Allele Identifier: CA2559510696
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515765_131515766del , CM000671.2:g.131515765_131515766del GRCh38
NC_000009.11:g.134391152_134391153del , CM000671.1:g.134391152_134391153del GRCh37
NC_000009.10:g.133380973_133380974del NCBI36
NG_008896.1:g.17864_17865del
NG_008896.2:g.17864_17865del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+243_1110+244del ENSP00000343034.7:n.1110+243_1110+244del
ENST00000404875.7:n.1812+243_1812+244del
ENST00000423007.6:c.1329+243_1329+244del ENSP00000404119.2:n.1329+243_1329+244del
ENST00000677295.2:c.*1616+243_*1616+244del ENSP00000504346.2:n.*1616+243_*1616+244del
ENST00000678264.2:c.*1455+243_*1455+244del ENSP00000503157.2:n.*1455+243_*1455+244del
ENST00000682070.1:n.1737+243_1737+244del
ENST00000682539.1:c.97+243_97+244del
ENST00000682813.1:n.1537+243_1537+244del
ENST00000683392.1:n.4019+243_4019+244del
ENST00000683712.1:n.1677+243_1677+244del
ENST00000683900.1:n.3172+243_3172+244del
ENST00000684062.1:n.1938+243_1938+244del
ENST00000684579.1:n.3118+243_3118+244del
ENST00000341012.12:c.1110+243_1110+244del ENSP00000343034.7:n.1110+243_1110+244del
ENST00000372220.5:c.141+243_141+244del ENSP00000361294.5:n.141+243_141+244del
ENST00000372228.9:c.1338+243_1338+244del ENSP00000361302.3:n.1338+243_1338+244del
ENST00000402686.8:c.1272+243_1272+244del MANE Select ENSP00000385797.4:n.1272+243_1272+244del
ENST00000676640.1:c.1272+243_1272+244del ENSP00000503281.1:n.1272+243_1272+244del
ENST00000676803.1:c.447+243_447+244del ENSP00000503093.1:n.447+243_447+244del
ENST00000676835.1:c.*487+243_*487+244del ENSP00000502911.1:n.*487+243_*487+244del
ENST00000677029.1:c.816+243_816+244del ENSP00000502936.1:n.816+243_816+244del
ENST00000677099.1:c.*982+243_*982+244del ENSP00000504553.1:n.*982+243_*982+244del
ENST00000677216.1:c.921+243_921+244del ENSP00000503772.1:n.921+243_921+244del
ENST00000677295.1:c.*649+243_*649+244del ENSP00000504346.1:n.*649+243_*649+244del
ENST00000677444.1:c.1078+243_1078+244del
ENST00000677586.1:n.753+243_753+244del
ENST00000677626.1:c.921+243_921+244del ENSP00000503552.1:n.921+243_921+244del
ENST00000677677.1:n.1232+243_1232+244del
ENST00000677853.1:c.*280+243_*280+244del ENSP00000503488.1:n.*280+243_*280+244del
ENST00000677944.1:c.534+243_534+244del
ENST00000678264.1:c.*649+243_*649+244del ENSP00000503157.1:n.*649+243_*649+244del
ENST00000678303.1:c.1182+243_1182+244del ENSP00000503696.1:n.1182+243_1182+244del
ENST00000678366.1:c.*1521+243_*1521+244del ENSP00000504353.1:n.*1521+243_*1521+244del
ENST00000678546.1:c.*1217+243_*1217+244del ENSP00000503062.1:n.*1217+243_*1217+244del
ENST00000678548.1:c.*1344+243_*1344+244del ENSP00000503934.1:n.*1344+243_*1344+244del
ENST00000678626.1:n.969+243_969+244del
ENST00000678733.1:c.353+243_353+244del
ENST00000678739.1:c.*1598+243_*1598+244del ENSP00000503806.1:n.*1598+243_*1598+244del
ENST00000678795.1:n.359+243_359+244del
ENST00000678833.1:c.*719+243_*719+244del ENSP00000503893.1:n.*719+243_*719+244del
ENST00000678942.1:c.452+243_452+244del ENSP00000504690.1:n.452+243_452+244del
ENST00000679023.1:c.1110+243_1110+244del ENSP00000503718.1:n.1110+243_1110+244del
ENST00000679076.1:c.891+243_891+244del
ENST00000679111.1:c.1272+243_1272+244del ENSP00000504257.1:n.1272+243_1272+244del
ENST00000679189.1:c.921+243_921+244del ENSP00000503356.1:n.921+243_921+244del
ENST00000341012.11:c.1110+243_1110+244del ENSP00000343034.7:n.1110+243_1110+244del
ENST00000372228.7:c.1338+243_1338+244del ENSP00000361302.3:n.1338+243_1338+244del
ENST00000402686.7:c.1272+243_1272+244del ENSP00000385797.3:n.1272+243_1272+244del
ENST00000404875.6:c.921+243_921+244del ENSP00000384531.2:n.921+243_921+244del
ENST00000423007.5:c.1272+243_1272+244del ENSP00000404119.1:n.1272+243_1272+244del
ENST00000485278.5:n.1827+243_1827+244del
NM_001077365.1:c.1272+243_1272+244del NP_001070833.1:n.1272+243_1272+244del
NM_001077366.1:c.1110+243_1110+244del NP_001070834.1:n.1110+243_1110+244del
NM_001136113.1:c.1272+243_1272+244del NP_001129585.1:n.1272+243_1272+244del
NM_001136114.1:c.921+243_921+244del NP_001129586.1:n.921+243_921+244del
NM_007171.3:c.1338+243_1338+244del NP_009102.3:n.1338+243_1338+244del
XM_005272156.1:c.1338+243_1338+244del XP_005272213.1:n.1338+243_1338+244del
XM_005272158.1:c.1176+243_1176+244del XP_005272215.1:n.1176+243_1176+244del
XM_005272159.1:c.987+243_987+244del XP_005272216.1:n.987+243_987+244del
XM_005272162.1:c.141+243_141+244del XP_005272219.1:n.141+243_141+244del
XM_006716932.1:c.987+243_987+244del XP_006716995.1:n.987+243_987+244del
XM_011518140.1:c.1191+243_1191+244del XP_011516442.1:n.1191+243_1191+244del
XM_011518141.1:c.1125+243_1125+244del XP_011516443.1:n.1125+243_1125+244del
XM_011518142.1:c.1029+243_1029+244del XP_011516444.1:n.1029+243_1029+244del
XM_011518143.1:c.1023+243_1023+244del XP_011516445.1:n.1023+243_1023+244del
XM_011518144.1:c.1338+243_1338+244del XP_011516446.1:n.1338+243_1338+244del
XM_011518145.1:c.882+243_882+244del XP_011516447.1:n.882+243_882+244del
XM_011518146.1:c.1023+243_1023+244del XP_011516448.1:n.1023+243_1023+244del
XR_929703.1:n.1514+243_1514+244del
NM_001353193.1:c.1338+243_1338+244del NP_001340122.1:n.1338+243_1338+244del
NM_001353194.1:c.1110+243_1110+244del NP_001340123.1:n.1110+243_1110+244del
NM_001353195.1:c.921+243_921+244del NP_001340124.1:n.921+243_921+244del
NM_001353196.1:c.1182+243_1182+244del NP_001340125.1:n.1182+243_1182+244del
NM_001353197.1:c.1176+243_1176+244del NP_001340126.1:n.1176+243_1176+244del
NM_001353198.1:c.1176+243_1176+244del NP_001340127.1:n.1176+243_1176+244del
NM_001353199.1:c.987+243_987+244del NP_001340128.1:n.987+243_987+244del
NM_001353200.1:c.816+243_816+244del NP_001340129.1:n.816+243_816+244del
NR_148391.1:n.1322+243_1322+244del
NR_148392.1:n.1540+243_1540+244del
NR_148393.1:n.1322+243_1322+244del
NR_148394.1:n.1215+243_1215+244del
NR_148395.1:n.1474+243_1474+244del
NR_148396.1:n.1108+243_1108+244del
NR_148397.1:n.1372+243_1372+244del
NR_148398.1:n.1327+243_1327+244del
NR_148399.1:n.1714+243_1714+244del
NR_148400.1:n.1313+243_1313+244del
XM_005272162.3:c.141+243_141+244del XP_005272219.1:n.141+243_141+244del
XM_006716932.2:c.987+243_987+244del XP_006716995.1:n.987+243_987+244del
XM_011518140.2:c.1191+243_1191+244del XP_011516442.1:n.1191+243_1191+244del
XM_011518141.2:c.1125+243_1125+244del XP_011516443.1:n.1125+243_1125+244del
XM_011518142.2:c.1029+243_1029+244del XP_011516444.1:n.1029+243_1029+244del
XM_011518143.2:c.1023+243_1023+244del XP_011516445.1:n.1023+243_1023+244del
XM_011518145.2:c.882+243_882+244del XP_011516447.1:n.882+243_882+244del
XM_017014205.2:c.141+243_141+244del XP_016869694.1:n.141+243_141+244del
XM_024447380.1:c.141+243_141+244del XP_024303148.1:n.141+243_141+244del
XM_024447381.1:c.447+243_447+244del XP_024303149.1:n.447+243_447+244del
XM_024447382.1:c.141+243_141+244del XP_024303150.1:n.141+243_141+244del
XR_001746160.2:n.1442+243_1442+244del
XR_001746162.2:n.1508+243_1508+244del
XR_001746164.1:n.1225+243_1225+244del
XR_001746166.2:n.1659+243_1659+244del
NM_001077365.2:c.1272+243_1272+244del MANE Select NP_001070833.1:n.1272+243_1272+244del
NM_001077366.2:c.1110+243_1110+244del NP_001070834.1:n.1110+243_1110+244del
NM_001136113.2:c.1272+243_1272+244del NP_001129585.1:n.1272+243_1272+244del
NM_001136114.2:c.921+243_921+244del NP_001129586.1:n.921+243_921+244del
NM_001353193.2:c.1338+243_1338+244del NP_001340122.2:n.1338+243_1338+244del
NM_001353194.2:c.1110+243_1110+244del NP_001340123.1:n.1110+243_1110+244del
NM_001353195.2:c.921+243_921+244del NP_001340124.1:n.921+243_921+244del
NM_001353196.2:c.1182+243_1182+244del NP_001340125.1:n.1182+243_1182+244del
NM_001353197.2:c.1176+243_1176+244del NP_001340126.2:n.1176+243_1176+244del
NM_001353198.2:c.1176+243_1176+244del NP_001340127.2:n.1176+243_1176+244del
NM_001353199.2:c.987+243_987+244del NP_001340128.2:n.987+243_987+244del
NM_001353200.2:c.816+243_816+244del NP_001340129.1:n.816+243_816+244del
NM_001374689.1:c.1260+243_1260+244del NP_001361618.1:n.1260+243_1260+244del
NM_001374690.1:c.1272+243_1272+244del NP_001361619.1:n.1272+243_1272+244del
NM_001374691.1:c.921+243_921+244del NP_001361620.1:n.921+243_921+244del
NM_001374692.1:c.921+243_921+244del NP_001361621.1:n.921+243_921+244del
NM_001374693.1:c.921+243_921+244del NP_001361622.1:n.921+243_921+244del
NM_001374695.1:c.882+243_882+244del NP_001361624.1:n.882+243_882+244del
NM_007171.4:c.1338+243_1338+244del NP_009102.4:n.1338+243_1338+244del
NR_148391.2:n.1306+243_1306+244del
NR_148392.2:n.1524+243_1524+244del
NR_148393.2:n.1306+243_1306+244del
NR_148394.2:n.1199+243_1199+244del
NR_148395.2:n.1458+243_1458+244del
NR_148396.2:n.1092+243_1092+244del
NR_148397.2:n.1356+243_1356+244del
NR_148398.2:n.1311+243_1311+244del
NR_148399.2:n.1698+243_1698+244del
NR_148400.2:n.1297+243_1297+244del