Canonical Allele Identifier: CA2786114510
Gene: POMT1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131515939_131515942del , CM000671.2:g.131515939_131515942del GRCh38
NC_000009.11:g.134391326_134391329del , CM000671.1:g.134391326_134391329del GRCh37
NC_000009.10:g.133381147_133381150del NCBI36
NG_008896.1:g.18038_18041del
NG_008896.2:g.18038_18041del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1110+417_1110+420del ENSP00000343034.7:n.1110+417_1110+420del
ENST00000404875.7:n.1812+417_1812+420del
ENST00000423007.6:c.1329+417_1329+420del ENSP00000404119.2:n.1329+417_1329+420del
ENST00000677295.2:c.*1616+417_*1616+420del ENSP00000504346.2:n.*1616+417_*1616+420del
ENST00000678264.2:c.*1455+417_*1455+420del ENSP00000503157.2:n.*1455+417_*1455+420del
ENST00000682070.1:n.1737+417_1737+420del
ENST00000682539.1:c.97+417_97+420del
ENST00000682813.1:n.1537+417_1537+420del
ENST00000683392.1:n.4019+417_4019+420del
ENST00000683712.1:n.1677+417_1677+420del
ENST00000683900.1:n.3172+417_3172+420del
ENST00000684062.1:n.1938+417_1938+420del
ENST00000684579.1:n.3118+417_3118+420del
ENST00000341012.12:c.1110+417_1110+420del ENSP00000343034.7:n.1110+417_1110+420del
ENST00000372220.5:c.141+417_141+420del ENSP00000361294.5:n.141+417_141+420del
ENST00000372228.9:c.1338+417_1338+420del ENSP00000361302.3:n.1338+417_1338+420del
ENST00000402686.8:c.1272+417_1272+420del MANE Select ENSP00000385797.4:n.1272+417_1272+420del
ENST00000676640.1:c.1272+417_1272+420del ENSP00000503281.1:n.1272+417_1272+420del
ENST00000676803.1:c.447+417_447+420del ENSP00000503093.1:n.447+417_447+420del
ENST00000676835.1:c.*487+417_*487+420del ENSP00000502911.1:n.*487+417_*487+420del
ENST00000677029.1:c.816+417_816+420del ENSP00000502936.1:n.816+417_816+420del
ENST00000677099.1:c.*982+417_*982+420del ENSP00000504553.1:n.*982+417_*982+420del
ENST00000677216.1:c.921+417_921+420del ENSP00000503772.1:n.921+417_921+420del
ENST00000677295.1:c.*649+417_*649+420del ENSP00000504346.1:n.*649+417_*649+420del
ENST00000677444.1:c.1078+417_1078+420del
ENST00000677586.1:n.753+417_753+420del
ENST00000677626.1:c.921+417_921+420del ENSP00000503552.1:n.921+417_921+420del
ENST00000677677.1:n.1232+417_1232+420del
ENST00000677853.1:c.*280+417_*280+420del ENSP00000503488.1:n.*280+417_*280+420del
ENST00000677944.1:c.534+417_534+420del
ENST00000678264.1:c.*649+417_*649+420del ENSP00000503157.1:n.*649+417_*649+420del
ENST00000678303.1:c.1182+417_1182+420del ENSP00000503696.1:n.1182+417_1182+420del
ENST00000678366.1:c.*1521+417_*1521+420del ENSP00000504353.1:n.*1521+417_*1521+420del
ENST00000678546.1:c.*1217+417_*1217+420del ENSP00000503062.1:n.*1217+417_*1217+420del
ENST00000678548.1:c.*1344+417_*1344+420del ENSP00000503934.1:n.*1344+417_*1344+420del
ENST00000678626.1:n.969+417_969+420del
ENST00000678733.1:c.353+417_353+420del
ENST00000678739.1:c.*1598+417_*1598+420del ENSP00000503806.1:n.*1598+417_*1598+420del
ENST00000678795.1:n.359+417_359+420del
ENST00000678833.1:c.*719+417_*719+420del ENSP00000503893.1:n.*719+417_*719+420del
ENST00000678942.1:c.452+417_452+420del ENSP00000504690.1:n.452+417_452+420del
ENST00000679023.1:c.1110+417_1110+420del ENSP00000503718.1:n.1110+417_1110+420del
ENST00000679076.1:c.891+417_891+420del
ENST00000679111.1:c.1272+417_1272+420del ENSP00000504257.1:n.1272+417_1272+420del
ENST00000679189.1:c.921+417_921+420del ENSP00000503356.1:n.921+417_921+420del
ENST00000341012.11:c.1110+417_1110+420del ENSP00000343034.7:n.1110+417_1110+420del
ENST00000372228.7:c.1338+417_1338+420del ENSP00000361302.3:n.1338+417_1338+420del
ENST00000402686.7:c.1272+417_1272+420del ENSP00000385797.3:n.1272+417_1272+420del
ENST00000404875.6:c.921+417_921+420del ENSP00000384531.2:n.921+417_921+420del
ENST00000423007.5:c.1272+417_1272+420del ENSP00000404119.1:n.1272+417_1272+420del
ENST00000485278.5:n.1827+417_1827+420del
NM_001077365.1:c.1272+417_1272+420del NP_001070833.1:n.1272+417_1272+420del
NM_001077366.1:c.1110+417_1110+420del NP_001070834.1:n.1110+417_1110+420del
NM_001136113.1:c.1272+417_1272+420del NP_001129585.1:n.1272+417_1272+420del
NM_001136114.1:c.921+417_921+420del NP_001129586.1:n.921+417_921+420del
NM_007171.3:c.1338+417_1338+420del NP_009102.3:n.1338+417_1338+420del
XM_005272156.1:c.1338+417_1338+420del XP_005272213.1:n.1338+417_1338+420del
XM_005272158.1:c.1176+417_1176+420del XP_005272215.1:n.1176+417_1176+420del
XM_005272159.1:c.987+417_987+420del XP_005272216.1:n.987+417_987+420del
XM_005272162.1:c.141+417_141+420del XP_005272219.1:n.141+417_141+420del
XM_006716932.1:c.987+417_987+420del XP_006716995.1:n.987+417_987+420del
XM_011518140.1:c.1191+417_1191+420del XP_011516442.1:n.1191+417_1191+420del
XM_011518141.1:c.1125+417_1125+420del XP_011516443.1:n.1125+417_1125+420del
XM_011518142.1:c.1029+417_1029+420del XP_011516444.1:n.1029+417_1029+420del
XM_011518143.1:c.1023+417_1023+420del XP_011516445.1:n.1023+417_1023+420del
XM_011518144.1:c.1338+417_1338+420del XP_011516446.1:n.1338+417_1338+420del
XM_011518145.1:c.882+417_882+420del XP_011516447.1:n.882+417_882+420del
XM_011518146.1:c.1023+417_1023+420del XP_011516448.1:n.1023+417_1023+420del
XR_929703.1:n.1514+417_1514+420del
NM_001353193.1:c.1338+417_1338+420del NP_001340122.1:n.1338+417_1338+420del
NM_001353194.1:c.1110+417_1110+420del NP_001340123.1:n.1110+417_1110+420del
NM_001353195.1:c.921+417_921+420del NP_001340124.1:n.921+417_921+420del
NM_001353196.1:c.1182+417_1182+420del NP_001340125.1:n.1182+417_1182+420del
NM_001353197.1:c.1176+417_1176+420del NP_001340126.1:n.1176+417_1176+420del
NM_001353198.1:c.1176+417_1176+420del NP_001340127.1:n.1176+417_1176+420del
NM_001353199.1:c.987+417_987+420del NP_001340128.1:n.987+417_987+420del
NM_001353200.1:c.816+417_816+420del NP_001340129.1:n.816+417_816+420del
NR_148391.1:n.1322+417_1322+420del
NR_148392.1:n.1540+417_1540+420del
NR_148393.1:n.1322+417_1322+420del
NR_148394.1:n.1215+417_1215+420del
NR_148395.1:n.1474+417_1474+420del
NR_148396.1:n.1108+417_1108+420del
NR_148397.1:n.1372+417_1372+420del
NR_148398.1:n.1327+417_1327+420del
NR_148399.1:n.1714+417_1714+420del
NR_148400.1:n.1313+417_1313+420del
XM_005272162.3:c.141+417_141+420del XP_005272219.1:n.141+417_141+420del
XM_006716932.2:c.987+417_987+420del XP_006716995.1:n.987+417_987+420del
XM_011518140.2:c.1191+417_1191+420del XP_011516442.1:n.1191+417_1191+420del
XM_011518141.2:c.1125+417_1125+420del XP_011516443.1:n.1125+417_1125+420del
XM_011518142.2:c.1029+417_1029+420del XP_011516444.1:n.1029+417_1029+420del
XM_011518143.2:c.1023+417_1023+420del XP_011516445.1:n.1023+417_1023+420del
XM_011518145.2:c.882+417_882+420del XP_011516447.1:n.882+417_882+420del
XM_017014205.2:c.141+417_141+420del XP_016869694.1:n.141+417_141+420del
XM_024447380.1:c.141+417_141+420del XP_024303148.1:n.141+417_141+420del
XM_024447381.1:c.447+417_447+420del XP_024303149.1:n.447+417_447+420del
XM_024447382.1:c.141+417_141+420del XP_024303150.1:n.141+417_141+420del
XR_001746160.2:n.1442+417_1442+420del
XR_001746162.2:n.1508+417_1508+420del
XR_001746164.1:n.1225+417_1225+420del
XR_001746166.2:n.1659+417_1659+420del
NM_001077365.2:c.1272+417_1272+420del MANE Select NP_001070833.1:n.1272+417_1272+420del
NM_001077366.2:c.1110+417_1110+420del NP_001070834.1:n.1110+417_1110+420del
NM_001136113.2:c.1272+417_1272+420del NP_001129585.1:n.1272+417_1272+420del
NM_001136114.2:c.921+417_921+420del NP_001129586.1:n.921+417_921+420del
NM_001353193.2:c.1338+417_1338+420del NP_001340122.2:n.1338+417_1338+420del
NM_001353194.2:c.1110+417_1110+420del NP_001340123.1:n.1110+417_1110+420del
NM_001353195.2:c.921+417_921+420del NP_001340124.1:n.921+417_921+420del
NM_001353196.2:c.1182+417_1182+420del NP_001340125.1:n.1182+417_1182+420del
NM_001353197.2:c.1176+417_1176+420del NP_001340126.2:n.1176+417_1176+420del
NM_001353198.2:c.1176+417_1176+420del NP_001340127.2:n.1176+417_1176+420del
NM_001353199.2:c.987+417_987+420del NP_001340128.2:n.987+417_987+420del
NM_001353200.2:c.816+417_816+420del NP_001340129.1:n.816+417_816+420del
NM_001374689.1:c.1260+417_1260+420del NP_001361618.1:n.1260+417_1260+420del
NM_001374690.1:c.1272+417_1272+420del NP_001361619.1:n.1272+417_1272+420del
NM_001374691.1:c.921+417_921+420del NP_001361620.1:n.921+417_921+420del
NM_001374692.1:c.921+417_921+420del NP_001361621.1:n.921+417_921+420del
NM_001374693.1:c.921+417_921+420del NP_001361622.1:n.921+417_921+420del
NM_001374695.1:c.882+417_882+420del NP_001361624.1:n.882+417_882+420del
NM_007171.4:c.1338+417_1338+420del NP_009102.4:n.1338+417_1338+420del
NR_148391.2:n.1306+417_1306+420del
NR_148392.2:n.1524+417_1524+420del
NR_148393.2:n.1306+417_1306+420del
NR_148394.2:n.1199+417_1199+420del
NR_148395.2:n.1458+417_1458+420del
NR_148396.2:n.1092+417_1092+420del
NR_148397.2:n.1356+417_1356+420del
NR_148398.2:n.1311+417_1311+420del
NR_148399.2:n.1698+417_1698+420del
NR_148400.2:n.1297+417_1297+420del
Search 100 bp 5'
Search 100 bp 3'