Canonical Allele Identifier: CA1881760305
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1950280132

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523024_131523027del , CM000671.2:g.131523024_131523027del GRCh38
NC_000009.11:g.134398411_134398414del , CM000671.1:g.134398411_134398414del GRCh37
NC_000009.10:g.133388232_133388235del NCBI36
NG_008896.1:g.25123_25126del
NG_008896.2:g.25123_25126del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1934_1937del ENSP00000343034.7:p.Tyr645TrpfsTer22
ENST00000404875.7:n.2636_2639del
ENST00000423007.6:c.2153_2156del ENSP00000404119.2:p.Tyr718TrpfsTer22
ENST00000677295.2:c.*2440_*2443del ENSP00000504346.2:n.*2440_*2443del
ENST00000678264.2:c.*2279_*2282del ENSP00000503157.2:n.*2279_*2282del
ENST00000682070.1:n.2406_2409del
ENST00000682639.1:c.93_96del
ENST00000682813.1:n.2493_2496del
ENST00000683231.1:c.93_96del
ENST00000683392.1:n.4688_4691del
ENST00000683712.1:n.2501_2504del
ENST00000683900.1:n.3996_3999del
ENST00000684062.1:n.2762_2765del
ENST00000684399.1:c.93_96del
ENST00000684579.1:n.3942_3945del
ENST00000341012.12:c.1934_1937del ENSP00000343034.7:p.Tyr645TrpfsTer22
ENST00000372220.5:c.965_968del ENSP00000361294.5:p.Tyr322TrpfsTer22
ENST00000372228.9:c.2162_2165del ENSP00000361302.3:p.Tyr721TrpfsTer22
ENST00000402686.8:c.2096_2099del MANE Select ENSP00000385797.4:p.Tyr699TrpfsTer22
ENST00000676640.1:c.2096_2099del ENSP00000503281.1:p.Tyr699TrpfsTer22
ENST00000676803.1:c.1157_1160del ENSP00000503093.1:p.Tyr386TrpfsTer22
ENST00000676835.1:c.*1311_*1314del ENSP00000502911.1:n.*1311_*1314del
ENST00000677029.1:c.1640_1643del ENSP00000502936.1:p.Tyr547TrpfsTer22
ENST00000677099.1:c.*1806_*1809del ENSP00000504553.1:n.*1806_*1809del
ENST00000677216.1:c.1745_1748del ENSP00000503772.1:p.Tyr582TrpfsTer22
ENST00000677295.1:c.*1318_*1321del ENSP00000504346.1:n.*1318_*1321del
ENST00000677444.1:c.2041_2044del
ENST00000677586.1:n.1463_1466del
ENST00000677626.1:c.1745_1748del ENSP00000503552.1:p.Tyr582TrpfsTer22
ENST00000677853.1:c.*1104_*1107del ENSP00000503488.1:n.*1104_*1107del
ENST00000678264.1:c.*1473_*1476del ENSP00000503157.1:n.*1473_*1476del
ENST00000678303.1:c.2006_2009del ENSP00000503696.1:p.Tyr669TrpfsTer22
ENST00000678366.1:c.*2345_*2348del ENSP00000504353.1:n.*2345_*2348del
ENST00000678546.1:c.*2041_*2044del ENSP00000503062.1:n.*2041_*2044del
ENST00000678548.1:c.*2235_*2238del ENSP00000503934.1:n.*2235_*2238del
ENST00000678626.1:n.1932_1935del
ENST00000678739.1:c.*2262_*2265del ENSP00000503806.1:n.*2262_*2265del
ENST00000678833.1:c.*1848_*1851del ENSP00000503893.1:n.*1848_*1851del
ENST00000679023.1:c.1934_1937del ENSP00000503718.1:p.Tyr645TrpfsTer22
ENST00000679076.1:c.1715_1718del
ENST00000679111.1:c.*852_*855del ENSP00000504257.1:n.*852_*855del
ENST00000679189.1:c.1745_1748del ENSP00000503356.1:p.Tyr582TrpfsTer22
ENST00000341012.11:c.1934_1937del ENSP00000343034.7:p.Tyr645TrpfsTer22
ENST00000372220.4:c.959_962del ENSP00000361294.4:p.Tyr320TrpfsTer22
ENST00000372228.7:c.2162_2165del ENSP00000361302.3:p.Tyr721TrpfsTer22
ENST00000402686.7:c.2096_2099del ENSP00000385797.3:p.Tyr699TrpfsTer22
ENST00000404875.6:c.1745_1748del ENSP00000384531.2:p.Tyr582TrpfsTer22
ENST00000423007.5:c.2096_2099del ENSP00000404119.1:p.Tyr699TrpfsTer22
ENST00000485278.5:n.2646_2649del
NM_001077365.1:c.2096_2099del NP_001070833.1:p.Tyr699TrpfsTer22
NM_001077366.1:c.1934_1937del NP_001070834.1:p.Tyr645TrpfsTer22
NM_001136113.1:c.2096_2099del NP_001129585.1:p.Tyr699TrpfsTer22
NM_001136114.1:c.1745_1748del NP_001129586.1:p.Tyr582TrpfsTer22
NM_007171.3:c.2162_2165del NP_009102.3:p.Tyr721TrpfsTer22
XM_005272156.1:c.2162_2165del XP_005272213.1:p.Tyr721TrpfsTer22
XM_005272158.1:c.2000_2003del XP_005272215.1:p.Tyr667TrpfsTer22
XM_005272159.1:c.1811_1814del XP_005272216.1:p.Tyr604TrpfsTer22
XM_005272162.1:c.965_968del XP_005272219.1:p.Tyr322TrpfsTer22
XM_006716932.1:c.1811_1814del XP_006716995.1:p.Tyr604TrpfsTer22
XM_011518140.1:c.2015_2018del XP_011516442.1:p.Tyr672TrpfsTer22
XM_011518141.1:c.1949_1952del XP_011516443.1:p.Tyr650TrpfsTer22
XM_011518142.1:c.1853_1856del XP_011516444.1:p.Tyr618TrpfsTer22
XM_011518143.1:c.1847_1850del XP_011516445.1:p.Tyr616TrpfsTer22
XM_011518145.1:c.1706_1709del XP_011516447.1:p.Tyr569TrpfsTer22
XM_011518147.1:c.1034_1037del XP_011516449.1:p.Tyr345TrpfsTer22
XR_929703.1:n.2338_2341del
NM_001353193.1:c.2162_2165del NP_001340122.1:p.Tyr721TrpfsTer22
NM_001353194.1:c.1934_1937del NP_001340123.1:p.Tyr645TrpfsTer22
NM_001353195.1:c.1745_1748del NP_001340124.1:p.Tyr582TrpfsTer22
NM_001353196.1:c.2006_2009del NP_001340125.1:p.Tyr669TrpfsTer22
NM_001353197.1:c.2000_2003del NP_001340126.1:p.Tyr667TrpfsTer22
NM_001353198.1:c.2000_2003del NP_001340127.1:p.Tyr667TrpfsTer22
NM_001353199.1:c.1811_1814del NP_001340128.1:p.Tyr604TrpfsTer22
NM_001353200.1:c.1640_1643del NP_001340129.1:p.Tyr547TrpfsTer22
NR_148391.1:n.2146_2149del
NR_148392.1:n.2364_2367del
NR_148393.1:n.2285_2288del
NR_148394.1:n.2039_2042del
NR_148395.1:n.2437_2440del
NR_148396.1:n.2071_2074del
NR_148397.1:n.2196_2199del
NR_148398.1:n.2151_2154del
NR_148399.1:n.2677_2680del
NR_148400.1:n.2276_2279del
XM_005272162.3:c.965_968del XP_005272219.1:p.Tyr322TrpfsTer22
XM_006716932.2:c.1811_1814del XP_006716995.1:p.Tyr604TrpfsTer22
XM_011518140.2:c.2015_2018del XP_011516442.1:p.Tyr672TrpfsTer22
XM_011518141.2:c.1949_1952del XP_011516443.1:p.Tyr650TrpfsTer22
XM_011518142.2:c.1853_1856del XP_011516444.1:p.Tyr618TrpfsTer22
XM_011518143.2:c.1847_1850del XP_011516445.1:p.Tyr616TrpfsTer22
XM_011518145.2:c.1706_1709del XP_011516447.1:p.Tyr569TrpfsTer22
XM_017014205.2:c.965_968del XP_016869694.1:p.Tyr322TrpfsTer22
XM_024447380.1:c.965_968del XP_024303148.1:p.Tyr322TrpfsTer22
XM_024447381.1:c.1271_1274del XP_024303149.1:p.Tyr424TrpfsTer22
XM_024447382.1:c.965_968del XP_024303150.1:p.Tyr322TrpfsTer22
XR_001746160.2:n.2266_2269del
XR_001746162.2:n.2471_2474del
XR_001746164.1:n.2188_2191del
XR_001746166.2:n.2483_2486del
NM_001077365.2:c.2096_2099del MANE Select NP_001070833.1:p.Tyr699TrpfsTer22
NM_001077366.2:c.1934_1937del NP_001070834.1:p.Tyr645TrpfsTer22
NM_001136113.2:c.2096_2099del NP_001129585.1:p.Tyr699TrpfsTer22
NM_001136114.2:c.1745_1748del NP_001129586.1:p.Tyr582TrpfsTer22
NM_001353193.2:c.2162_2165del NP_001340122.2:p.Tyr721TrpfsTer22
NM_001353194.2:c.1934_1937del NP_001340123.1:p.Tyr645TrpfsTer22
NM_001353195.2:c.1745_1748del NP_001340124.1:p.Tyr582TrpfsTer22
NM_001353196.2:c.2006_2009del NP_001340125.1:p.Tyr669TrpfsTer22
NM_001353197.2:c.2000_2003del NP_001340126.2:p.Tyr667TrpfsTer22
NM_001353198.2:c.2000_2003del NP_001340127.2:p.Tyr667TrpfsTer22
NM_001353199.2:c.1811_1814del NP_001340128.2:p.Tyr604TrpfsTer22
NM_001353200.2:c.1640_1643del NP_001340129.1:p.Tyr547TrpfsTer22
NM_001374689.1:c.2084_2087del NP_001361618.1:p.Tyr695TrpfsTer22
NM_001374690.1:c.1877_1880del NP_001361619.1:p.Tyr626TrpfsTer22
NM_001374691.1:c.1745_1748del NP_001361620.1:p.Tyr582TrpfsTer22
NM_001374692.1:c.1745_1748del NP_001361621.1:p.Tyr582TrpfsTer22
NM_001374693.1:c.1745_1748del NP_001361622.1:p.Tyr582TrpfsTer22
NM_001374695.1:c.1706_1709del NP_001361624.1:p.Tyr569TrpfsTer22
NM_007171.4:c.2162_2165del NP_009102.4:p.Tyr721TrpfsTer22
NR_148391.2:n.2130_2133del
NR_148392.2:n.2348_2351del
NR_148393.2:n.2269_2272del
NR_148394.2:n.2023_2026del
NR_148395.2:n.2421_2424del
NR_148396.2:n.2055_2058del
NR_148397.2:n.2180_2183del
NR_148398.2:n.2135_2138del
NR_148399.2:n.2661_2664del
NR_148400.2:n.2260_2263del