Canonical Allele Identifier: CA2692220759
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518672_131518680del , CM000671.2:g.131518672_131518680del GRCh38
NC_000009.11:g.134394059_134394067del , CM000671.1:g.134394059_134394067del GRCh37
NC_000009.10:g.133383880_133383888del NCBI36
NG_008896.1:g.20771_20779del
NG_008896.2:g.20771_20779del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1203+135_1203+143del ENSP00000343034.7:n.1203+135_1203+143del
ENST00000404875.7:n.1905+135_1905+143del
ENST00000423007.6:c.1422+135_1422+143del ENSP00000404119.2:n.1422+135_1422+143del
ENST00000677295.2:c.*1709+135_*1709+143del ENSP00000504346.2:n.*1709+135_*1709+143del
ENST00000678264.2:c.*1548+135_*1548+143del ENSP00000503157.2:n.*1548+135_*1548+143del
ENST00000682070.1:n.1830+135_1830+143del
ENST00000682539.1:c.303+135_303+143del
ENST00000682813.1:n.1631-26_1631-18del
ENST00000683110.1:n.94-56_94-48del
ENST00000683392.1:n.4112+135_4112+143del
ENST00000683712.1:n.1770+135_1770+143del
ENST00000683900.1:n.3265+135_3265+143del
ENST00000684062.1:n.2031+135_2031+143del
ENST00000684579.1:n.3211+135_3211+143del
ENST00000684679.1:n.592+135_592+143del
ENST00000341012.12:c.1203+135_1203+143del ENSP00000343034.7:n.1203+135_1203+143del
ENST00000372220.5:c.234+135_234+143del ENSP00000361294.5:n.234+135_234+143del
ENST00000372228.9:c.1431+135_1431+143del ENSP00000361302.3:n.1431+135_1431+143del
ENST00000402686.8:c.1365+135_1365+143del MANE Select ENSP00000385797.4:n.1365+135_1365+143del
ENST00000676640.1:c.1365+135_1365+143del ENSP00000503281.1:n.1365+135_1365+143del
ENST00000676803.1:c.540+135_540+143del ENSP00000503093.1:n.540+135_540+143del
ENST00000676835.1:c.*580+135_*580+143del ENSP00000502911.1:n.*580+135_*580+143del
ENST00000677029.1:c.909+135_909+143del ENSP00000502936.1:n.909+135_909+143del
ENST00000677099.1:c.*1075+135_*1075+143del ENSP00000504553.1:n.*1075+135_*1075+143del
ENST00000677216.1:c.1014+135_1014+143del ENSP00000503772.1:n.1014+135_1014+143del
ENST00000677221.1:n.390+135_390+143del
ENST00000677295.1:c.*742+135_*742+143del ENSP00000504346.1:n.*742+135_*742+143del
ENST00000677444.1:c.1172-26_1172-18del
ENST00000677586.1:n.846+135_846+143del
ENST00000677626.1:c.1014+135_1014+143del ENSP00000503552.1:n.1014+135_1014+143del
ENST00000677677.1:n.1325+135_1325+143del
ENST00000677853.1:c.*373+135_*373+143del ENSP00000503488.1:n.*373+135_*373+143del
ENST00000677983.1:n.455-26_455-18del
ENST00000678202.1:n.386-26_386-18del
ENST00000678264.1:c.*742+135_*742+143del ENSP00000503157.1:n.*742+135_*742+143del
ENST00000678303.1:c.1275+135_1275+143del ENSP00000503696.1:n.1275+135_1275+143del
ENST00000678366.1:c.*1614+135_*1614+143del ENSP00000504353.1:n.*1614+135_*1614+143del
ENST00000678546.1:c.*1310+135_*1310+143del ENSP00000503062.1:n.*1310+135_*1310+143del
ENST00000678548.1:c.*1437+135_*1437+143del ENSP00000503934.1:n.*1437+135_*1437+143del
ENST00000678626.1:n.1063-26_1063-18del
ENST00000678733.1:c.446+135_446+143del
ENST00000678739.1:c.*1691+135_*1691+143del ENSP00000503806.1:n.*1691+135_*1691+143del
ENST00000678795.1:n.453-26_453-18del
ENST00000678833.1:c.*812+135_*812+143del ENSP00000503893.1:n.*812+135_*812+143del
ENST00000678942.1:c.546-26_546-18del ENSP00000504690.1:n.546-26_546-18del
ENST00000679023.1:c.1203+135_1203+143del ENSP00000503718.1:n.1203+135_1203+143del
ENST00000679076.1:c.984+135_984+143del
ENST00000679111.1:c.1366-26_1366-18del ENSP00000504257.1:n.1366-26_1366-18del
ENST00000679189.1:c.1014+135_1014+143del ENSP00000503356.1:n.1014+135_1014+143del
ENST00000341012.11:c.1203+135_1203+143del ENSP00000343034.7:n.1203+135_1203+143del
ENST00000372220.4:c.228+135_228+143del ENSP00000361294.4:n.228+135_228+143del
ENST00000372228.7:c.1431+135_1431+143del ENSP00000361302.3:n.1431+135_1431+143del
ENST00000402686.7:c.1365+135_1365+143del ENSP00000385797.3:n.1365+135_1365+143del
ENST00000404875.6:c.1014+135_1014+143del ENSP00000384531.2:n.1014+135_1014+143del
ENST00000423007.5:c.1365+135_1365+143del ENSP00000404119.1:n.1365+135_1365+143del
ENST00000485278.5:n.1920+135_1920+143del
NM_001077365.1:c.1365+135_1365+143del NP_001070833.1:n.1365+135_1365+143del
NM_001077366.1:c.1203+135_1203+143del NP_001070834.1:n.1203+135_1203+143del
NM_001136113.1:c.1365+135_1365+143del NP_001129585.1:n.1365+135_1365+143del
NM_001136114.1:c.1014+135_1014+143del NP_001129586.1:n.1014+135_1014+143del
NM_007171.3:c.1431+135_1431+143del NP_009102.3:n.1431+135_1431+143del
XM_005272156.1:c.1431+135_1431+143del XP_005272213.1:n.1431+135_1431+143del
XM_005272158.1:c.1269+135_1269+143del XP_005272215.1:n.1269+135_1269+143del
XM_005272159.1:c.1080+135_1080+143del XP_005272216.1:n.1080+135_1080+143del
XM_005272162.1:c.234+135_234+143del XP_005272219.1:n.234+135_234+143del
XM_006716932.1:c.1080+135_1080+143del XP_006716995.1:n.1080+135_1080+143del
XM_011518140.1:c.1284+135_1284+143del XP_011516442.1:n.1284+135_1284+143del
XM_011518141.1:c.1218+135_1218+143del XP_011516443.1:n.1218+135_1218+143del
XM_011518142.1:c.1122+135_1122+143del XP_011516444.1:n.1122+135_1122+143del
XM_011518143.1:c.1116+135_1116+143del XP_011516445.1:n.1116+135_1116+143del
XM_011518144.1:c.1432-26_1432-18del XP_011516446.1:n.1432-26_1432-18del
XM_011518145.1:c.975+135_975+143del XP_011516447.1:n.975+135_975+143del
XM_011518146.1:c.1117-26_1117-18del XP_011516448.1:n.1117-26_1117-18del
XM_011518147.1:c.303+135_303+143del XP_011516449.1:n.303+135_303+143del
XR_929703.1:n.1607+135_1607+143del
NM_001353193.1:c.1431+135_1431+143del NP_001340122.1:n.1431+135_1431+143del
NM_001353194.1:c.1203+135_1203+143del NP_001340123.1:n.1203+135_1203+143del
NM_001353195.1:c.1014+135_1014+143del NP_001340124.1:n.1014+135_1014+143del
NM_001353196.1:c.1275+135_1275+143del NP_001340125.1:n.1275+135_1275+143del
NM_001353197.1:c.1269+135_1269+143del NP_001340126.1:n.1269+135_1269+143del
NM_001353198.1:c.1269+135_1269+143del NP_001340127.1:n.1269+135_1269+143del
NM_001353199.1:c.1080+135_1080+143del NP_001340128.1:n.1080+135_1080+143del
NM_001353200.1:c.909+135_909+143del NP_001340129.1:n.909+135_909+143del
NR_148391.1:n.1415+135_1415+143del
NR_148392.1:n.1633+135_1633+143del
NR_148393.1:n.1416-26_1416-18del
NR_148394.1:n.1308+135_1308+143del
NR_148395.1:n.1568-26_1568-18del
NR_148396.1:n.1202-26_1202-18del
NR_148397.1:n.1465+135_1465+143del
NR_148398.1:n.1420+135_1420+143del
NR_148399.1:n.1808-26_1808-18del
NR_148400.1:n.1407-26_1407-18del
XM_005272162.3:c.234+135_234+143del XP_005272219.1:n.234+135_234+143del
XM_006716932.2:c.1080+135_1080+143del XP_006716995.1:n.1080+135_1080+143del
XM_011518140.2:c.1284+135_1284+143del XP_011516442.1:n.1284+135_1284+143del
XM_011518141.2:c.1218+135_1218+143del XP_011516443.1:n.1218+135_1218+143del
XM_011518142.2:c.1122+135_1122+143del XP_011516444.1:n.1122+135_1122+143del
XM_011518143.2:c.1116+135_1116+143del XP_011516445.1:n.1116+135_1116+143del
XM_011518145.2:c.975+135_975+143del XP_011516447.1:n.975+135_975+143del
XM_017014205.2:c.234+135_234+143del XP_016869694.1:n.234+135_234+143del
XM_024447380.1:c.234+135_234+143del XP_024303148.1:n.234+135_234+143del
XM_024447381.1:c.540+135_540+143del XP_024303149.1:n.540+135_540+143del
XM_024447382.1:c.234+135_234+143del XP_024303150.1:n.234+135_234+143del
XR_001746160.2:n.1535+135_1535+143del
XR_001746162.2:n.1602-26_1602-18del
XR_001746164.1:n.1319-26_1319-18del
XR_001746166.2:n.1752+135_1752+143del
NM_001077365.2:c.1365+135_1365+143del MANE Select NP_001070833.1:n.1365+135_1365+143del
NM_001077366.2:c.1203+135_1203+143del NP_001070834.1:n.1203+135_1203+143del
NM_001136113.2:c.1365+135_1365+143del NP_001129585.1:n.1365+135_1365+143del
NM_001136114.2:c.1014+135_1014+143del NP_001129586.1:n.1014+135_1014+143del
NM_001353193.2:c.1431+135_1431+143del NP_001340122.2:n.1431+135_1431+143del
NM_001353194.2:c.1203+135_1203+143del NP_001340123.1:n.1203+135_1203+143del
NM_001353195.2:c.1014+135_1014+143del NP_001340124.1:n.1014+135_1014+143del
NM_001353196.2:c.1275+135_1275+143del NP_001340125.1:n.1275+135_1275+143del
NM_001353197.2:c.1269+135_1269+143del NP_001340126.2:n.1269+135_1269+143del
NM_001353198.2:c.1269+135_1269+143del NP_001340127.2:n.1269+135_1269+143del
NM_001353199.2:c.1080+135_1080+143del NP_001340128.2:n.1080+135_1080+143del
NM_001353200.2:c.909+135_909+143del NP_001340129.1:n.909+135_909+143del
NM_001374689.1:c.1353+135_1353+143del NP_001361618.1:n.1353+135_1353+143del
NM_001374690.1:c.1365+135_1365+143del NP_001361619.1:n.1365+135_1365+143del
NM_001374691.1:c.1014+135_1014+143del NP_001361620.1:n.1014+135_1014+143del
NM_001374692.1:c.1014+135_1014+143del NP_001361621.1:n.1014+135_1014+143del
NM_001374693.1:c.1014+135_1014+143del NP_001361622.1:n.1014+135_1014+143del
NM_001374695.1:c.975+135_975+143del NP_001361624.1:n.975+135_975+143del
NM_007171.4:c.1431+135_1431+143del NP_009102.4:n.1431+135_1431+143del
NR_148391.2:n.1399+135_1399+143del
NR_148392.2:n.1617+135_1617+143del
NR_148393.2:n.1400-26_1400-18del
NR_148394.2:n.1292+135_1292+143del
NR_148395.2:n.1552-26_1552-18del
NR_148396.2:n.1186-26_1186-18del
NR_148397.2:n.1449+135_1449+143del
NR_148398.2:n.1404+135_1404+143del
NR_148399.2:n.1792-26_1792-18del
NR_148400.2:n.1391-26_1391-18del