Canonical Allele Identifier: CA2786114478
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515746_131515748del , CM000671.2:g.131515746_131515748del GRCh38
NC_000009.11:g.134391133_134391135del , CM000671.1:g.134391133_134391135del GRCh37
NC_000009.10:g.133380954_133380956del NCBI36
NG_008896.1:g.17845_17847del
NG_008896.2:g.17845_17847del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+224_1110+226del ENSP00000343034.7:n.1110+224_1110+226del
ENST00000404875.7:n.1812+224_1812+226del
ENST00000423007.6:c.1329+224_1329+226del ENSP00000404119.2:n.1329+224_1329+226del
ENST00000677295.2:c.*1616+224_*1616+226del ENSP00000504346.2:n.*1616+224_*1616+226del
ENST00000678264.2:c.*1455+224_*1455+226del ENSP00000503157.2:n.*1455+224_*1455+226del
ENST00000682070.1:n.1737+224_1737+226del
ENST00000682539.1:c.97+224_97+226del
ENST00000682813.1:n.1537+224_1537+226del
ENST00000683392.1:n.4019+224_4019+226del
ENST00000683712.1:n.1677+224_1677+226del
ENST00000683900.1:n.3172+224_3172+226del
ENST00000684062.1:n.1938+224_1938+226del
ENST00000684579.1:n.3118+224_3118+226del
ENST00000341012.12:c.1110+224_1110+226del ENSP00000343034.7:n.1110+224_1110+226del
ENST00000372220.5:c.141+224_141+226del ENSP00000361294.5:n.141+224_141+226del
ENST00000372228.9:c.1338+224_1338+226del ENSP00000361302.3:n.1338+224_1338+226del
ENST00000402686.8:c.1272+224_1272+226del MANE Select ENSP00000385797.4:n.1272+224_1272+226del
ENST00000676640.1:c.1272+224_1272+226del ENSP00000503281.1:n.1272+224_1272+226del
ENST00000676803.1:c.447+224_447+226del ENSP00000503093.1:n.447+224_447+226del
ENST00000676835.1:c.*487+224_*487+226del ENSP00000502911.1:n.*487+224_*487+226del
ENST00000677029.1:c.816+224_816+226del ENSP00000502936.1:n.816+224_816+226del
ENST00000677099.1:c.*982+224_*982+226del ENSP00000504553.1:n.*982+224_*982+226del
ENST00000677216.1:c.921+224_921+226del ENSP00000503772.1:n.921+224_921+226del
ENST00000677295.1:c.*649+224_*649+226del ENSP00000504346.1:n.*649+224_*649+226del
ENST00000677444.1:c.1078+224_1078+226del
ENST00000677586.1:n.753+224_753+226del
ENST00000677626.1:c.921+224_921+226del ENSP00000503552.1:n.921+224_921+226del
ENST00000677677.1:n.1232+224_1232+226del
ENST00000677853.1:c.*280+224_*280+226del ENSP00000503488.1:n.*280+224_*280+226del
ENST00000677944.1:c.534+224_534+226del
ENST00000678264.1:c.*649+224_*649+226del ENSP00000503157.1:n.*649+224_*649+226del
ENST00000678303.1:c.1182+224_1182+226del ENSP00000503696.1:n.1182+224_1182+226del
ENST00000678366.1:c.*1521+224_*1521+226del ENSP00000504353.1:n.*1521+224_*1521+226del
ENST00000678546.1:c.*1217+224_*1217+226del ENSP00000503062.1:n.*1217+224_*1217+226del
ENST00000678548.1:c.*1344+224_*1344+226del ENSP00000503934.1:n.*1344+224_*1344+226del
ENST00000678626.1:n.969+224_969+226del
ENST00000678733.1:c.353+224_353+226del
ENST00000678739.1:c.*1598+224_*1598+226del ENSP00000503806.1:n.*1598+224_*1598+226del
ENST00000678795.1:n.359+224_359+226del
ENST00000678833.1:c.*719+224_*719+226del ENSP00000503893.1:n.*719+224_*719+226del
ENST00000678942.1:c.452+224_452+226del ENSP00000504690.1:n.452+224_452+226del
ENST00000679023.1:c.1110+224_1110+226del ENSP00000503718.1:n.1110+224_1110+226del
ENST00000679076.1:c.891+224_891+226del
ENST00000679111.1:c.1272+224_1272+226del ENSP00000504257.1:n.1272+224_1272+226del
ENST00000679189.1:c.921+224_921+226del ENSP00000503356.1:n.921+224_921+226del
ENST00000341012.11:c.1110+224_1110+226del ENSP00000343034.7:n.1110+224_1110+226del
ENST00000372228.7:c.1338+224_1338+226del ENSP00000361302.3:n.1338+224_1338+226del
ENST00000402686.7:c.1272+224_1272+226del ENSP00000385797.3:n.1272+224_1272+226del
ENST00000404875.6:c.921+224_921+226del ENSP00000384531.2:n.921+224_921+226del
ENST00000423007.5:c.1272+224_1272+226del ENSP00000404119.1:n.1272+224_1272+226del
ENST00000485278.5:n.1827+224_1827+226del
NM_001077365.1:c.1272+224_1272+226del NP_001070833.1:n.1272+224_1272+226del
NM_001077366.1:c.1110+224_1110+226del NP_001070834.1:n.1110+224_1110+226del
NM_001136113.1:c.1272+224_1272+226del NP_001129585.1:n.1272+224_1272+226del
NM_001136114.1:c.921+224_921+226del NP_001129586.1:n.921+224_921+226del
NM_007171.3:c.1338+224_1338+226del NP_009102.3:n.1338+224_1338+226del
XM_005272156.1:c.1338+224_1338+226del XP_005272213.1:n.1338+224_1338+226del
XM_005272158.1:c.1176+224_1176+226del XP_005272215.1:n.1176+224_1176+226del
XM_005272159.1:c.987+224_987+226del XP_005272216.1:n.987+224_987+226del
XM_005272162.1:c.141+224_141+226del XP_005272219.1:n.141+224_141+226del
XM_006716932.1:c.987+224_987+226del XP_006716995.1:n.987+224_987+226del
XM_011518140.1:c.1191+224_1191+226del XP_011516442.1:n.1191+224_1191+226del
XM_011518141.1:c.1125+224_1125+226del XP_011516443.1:n.1125+224_1125+226del
XM_011518142.1:c.1029+224_1029+226del XP_011516444.1:n.1029+224_1029+226del
XM_011518143.1:c.1023+224_1023+226del XP_011516445.1:n.1023+224_1023+226del
XM_011518144.1:c.1338+224_1338+226del XP_011516446.1:n.1338+224_1338+226del
XM_011518145.1:c.882+224_882+226del XP_011516447.1:n.882+224_882+226del
XM_011518146.1:c.1023+224_1023+226del XP_011516448.1:n.1023+224_1023+226del
XR_929703.1:n.1514+224_1514+226del
NM_001353193.1:c.1338+224_1338+226del NP_001340122.1:n.1338+224_1338+226del
NM_001353194.1:c.1110+224_1110+226del NP_001340123.1:n.1110+224_1110+226del
NM_001353195.1:c.921+224_921+226del NP_001340124.1:n.921+224_921+226del
NM_001353196.1:c.1182+224_1182+226del NP_001340125.1:n.1182+224_1182+226del
NM_001353197.1:c.1176+224_1176+226del NP_001340126.1:n.1176+224_1176+226del
NM_001353198.1:c.1176+224_1176+226del NP_001340127.1:n.1176+224_1176+226del
NM_001353199.1:c.987+224_987+226del NP_001340128.1:n.987+224_987+226del
NM_001353200.1:c.816+224_816+226del NP_001340129.1:n.816+224_816+226del
NR_148391.1:n.1322+224_1322+226del
NR_148392.1:n.1540+224_1540+226del
NR_148393.1:n.1322+224_1322+226del
NR_148394.1:n.1215+224_1215+226del
NR_148395.1:n.1474+224_1474+226del
NR_148396.1:n.1108+224_1108+226del
NR_148397.1:n.1372+224_1372+226del
NR_148398.1:n.1327+224_1327+226del
NR_148399.1:n.1714+224_1714+226del
NR_148400.1:n.1313+224_1313+226del
XM_005272162.3:c.141+224_141+226del XP_005272219.1:n.141+224_141+226del
XM_006716932.2:c.987+224_987+226del XP_006716995.1:n.987+224_987+226del
XM_011518140.2:c.1191+224_1191+226del XP_011516442.1:n.1191+224_1191+226del
XM_011518141.2:c.1125+224_1125+226del XP_011516443.1:n.1125+224_1125+226del
XM_011518142.2:c.1029+224_1029+226del XP_011516444.1:n.1029+224_1029+226del
XM_011518143.2:c.1023+224_1023+226del XP_011516445.1:n.1023+224_1023+226del
XM_011518145.2:c.882+224_882+226del XP_011516447.1:n.882+224_882+226del
XM_017014205.2:c.141+224_141+226del XP_016869694.1:n.141+224_141+226del
XM_024447380.1:c.141+224_141+226del XP_024303148.1:n.141+224_141+226del
XM_024447381.1:c.447+224_447+226del XP_024303149.1:n.447+224_447+226del
XM_024447382.1:c.141+224_141+226del XP_024303150.1:n.141+224_141+226del
XR_001746160.2:n.1442+224_1442+226del
XR_001746162.2:n.1508+224_1508+226del
XR_001746164.1:n.1225+224_1225+226del
XR_001746166.2:n.1659+224_1659+226del
NM_001077365.2:c.1272+224_1272+226del MANE Select NP_001070833.1:n.1272+224_1272+226del
NM_001077366.2:c.1110+224_1110+226del NP_001070834.1:n.1110+224_1110+226del
NM_001136113.2:c.1272+224_1272+226del NP_001129585.1:n.1272+224_1272+226del
NM_001136114.2:c.921+224_921+226del NP_001129586.1:n.921+224_921+226del
NM_001353193.2:c.1338+224_1338+226del NP_001340122.2:n.1338+224_1338+226del
NM_001353194.2:c.1110+224_1110+226del NP_001340123.1:n.1110+224_1110+226del
NM_001353195.2:c.921+224_921+226del NP_001340124.1:n.921+224_921+226del
NM_001353196.2:c.1182+224_1182+226del NP_001340125.1:n.1182+224_1182+226del
NM_001353197.2:c.1176+224_1176+226del NP_001340126.2:n.1176+224_1176+226del
NM_001353198.2:c.1176+224_1176+226del NP_001340127.2:n.1176+224_1176+226del
NM_001353199.2:c.987+224_987+226del NP_001340128.2:n.987+224_987+226del
NM_001353200.2:c.816+224_816+226del NP_001340129.1:n.816+224_816+226del
NM_001374689.1:c.1260+224_1260+226del NP_001361618.1:n.1260+224_1260+226del
NM_001374690.1:c.1272+224_1272+226del NP_001361619.1:n.1272+224_1272+226del
NM_001374691.1:c.921+224_921+226del NP_001361620.1:n.921+224_921+226del
NM_001374692.1:c.921+224_921+226del NP_001361621.1:n.921+224_921+226del
NM_001374693.1:c.921+224_921+226del NP_001361622.1:n.921+224_921+226del
NM_001374695.1:c.882+224_882+226del NP_001361624.1:n.882+224_882+226del
NM_007171.4:c.1338+224_1338+226del NP_009102.4:n.1338+224_1338+226del
NR_148391.2:n.1306+224_1306+226del
NR_148392.2:n.1524+224_1524+226del
NR_148393.2:n.1306+224_1306+226del
NR_148394.2:n.1199+224_1199+226del
NR_148395.2:n.1458+224_1458+226del
NR_148396.2:n.1092+224_1092+226del
NR_148397.2:n.1356+224_1356+226del
NR_148398.2:n.1311+224_1311+226del
NR_148399.2:n.1698+224_1698+226del
NR_148400.2:n.1297+224_1297+226del