Canonical Allele Identifier: CA2692221715
Gene: POMT1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523037_131523038del , CM000671.2:g.131523037_131523038del GRCh38
NC_000009.11:g.134398424_134398425del , CM000671.1:g.134398424_134398425del GRCh37
NC_000009.10:g.133388245_133388246del NCBI36
NG_008896.1:g.25136_25137del
NG_008896.2:g.25136_25137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1947_1948del ENSP00000343034.7:p.Ser651AlafsTer3
ENST00000404875.7:n.2649_2650del
ENST00000423007.6:c.2166_2167del ENSP00000404119.2:p.Ser724AlafsTer3
ENST00000677295.2:c.*2453_*2454del ENSP00000504346.2:n.*2453_*2454del
ENST00000678264.2:c.*2292_*2293del ENSP00000503157.2:n.*2292_*2293del
ENST00000682070.1:n.2419_2420del
ENST00000682639.1:c.106_107del
ENST00000682813.1:n.2506_2507del
ENST00000683231.1:c.106_107del
ENST00000683392.1:n.4701_4702del
ENST00000683712.1:n.2514_2515del
ENST00000683900.1:n.4009_4010del
ENST00000684062.1:n.2775_2776del
ENST00000684399.1:c.106_107del
ENST00000684579.1:n.3955_3956del
ENST00000341012.12:c.1947_1948del ENSP00000343034.7:p.Ser651AlafsTer3
ENST00000372220.5:c.978_979del ENSP00000361294.5:p.Ser328AlafsTer3
ENST00000372228.9:c.2175_2176del ENSP00000361302.3:p.Ser727AlafsTer3
ENST00000402686.8:c.2109_2110del MANE Select ENSP00000385797.4:p.Ser705AlafsTer3
ENST00000676640.1:c.2109_2110del ENSP00000503281.1:p.Ser705AlafsTer3
ENST00000676803.1:c.1170_1171del ENSP00000503093.1:p.Ser392AlafsTer3
ENST00000676835.1:c.*1324_*1325del ENSP00000502911.1:n.*1324_*1325del
ENST00000677029.1:c.1653_1654del ENSP00000502936.1:p.Ser553AlafsTer3
ENST00000677099.1:c.*1819_*1820del ENSP00000504553.1:n.*1819_*1820del
ENST00000677216.1:c.1758_1759del ENSP00000503772.1:p.Ser588AlafsTer3
ENST00000677295.1:c.*1331_*1332del ENSP00000504346.1:n.*1331_*1332del
ENST00000677444.1:c.2054_2055del
ENST00000677586.1:n.1476_1477del
ENST00000677626.1:c.1758_1759del ENSP00000503552.1:p.Ser588AlafsTer3
ENST00000677853.1:c.*1117_*1118del ENSP00000503488.1:n.*1117_*1118del
ENST00000678264.1:c.*1486_*1487del ENSP00000503157.1:n.*1486_*1487del
ENST00000678303.1:c.2019_2020del ENSP00000503696.1:p.Ser675AlafsTer3
ENST00000678366.1:c.*2358_*2359del ENSP00000504353.1:n.*2358_*2359del
ENST00000678546.1:c.*2054_*2055del ENSP00000503062.1:n.*2054_*2055del
ENST00000678548.1:c.*2248_*2249del ENSP00000503934.1:n.*2248_*2249del
ENST00000678626.1:n.1945_1946del
ENST00000678739.1:c.*2275_*2276del ENSP00000503806.1:n.*2275_*2276del
ENST00000678833.1:c.*1861_*1862del ENSP00000503893.1:n.*1861_*1862del
ENST00000679023.1:c.1947_1948del ENSP00000503718.1:p.Ser651AlafsTer3
ENST00000679076.1:c.1728_1729del
ENST00000679111.1:c.*865_*866del ENSP00000504257.1:n.*865_*866del
ENST00000679189.1:c.1758_1759del ENSP00000503356.1:p.Ser588AlafsTer3
ENST00000341012.11:c.1947_1948del ENSP00000343034.7:p.Ser651AlafsTer3
ENST00000372220.4:c.972_973del ENSP00000361294.4:p.Ser326AlafsTer3
ENST00000372228.7:c.2175_2176del ENSP00000361302.3:p.Ser727AlafsTer3
ENST00000402686.7:c.2109_2110del ENSP00000385797.3:p.Ser705AlafsTer3
ENST00000404875.6:c.1758_1759del ENSP00000384531.2:p.Ser588AlafsTer3
ENST00000423007.5:c.2109_2110del ENSP00000404119.1:p.Ser705AlafsTer3
ENST00000485278.5:n.2659_2660del
NM_001077365.1:c.2109_2110del NP_001070833.1:p.Ser705AlafsTer3
NM_001077366.1:c.1947_1948del NP_001070834.1:p.Ser651AlafsTer3
NM_001136113.1:c.2109_2110del NP_001129585.1:p.Ser705AlafsTer3
NM_001136114.1:c.1758_1759del NP_001129586.1:p.Ser588AlafsTer3
NM_007171.3:c.2175_2176del NP_009102.3:p.Ser727AlafsTer3
XM_005272156.1:c.2175_2176del XP_005272213.1:p.Ser727AlafsTer3
XM_005272158.1:c.2013_2014del XP_005272215.1:p.Ser673AlafsTer3
XM_005272159.1:c.1824_1825del XP_005272216.1:p.Ser610AlafsTer3
XM_005272162.1:c.978_979del XP_005272219.1:p.Ser328AlafsTer3
XM_006716932.1:c.1824_1825del XP_006716995.1:p.Ser610AlafsTer3
XM_011518140.1:c.2028_2029del XP_011516442.1:p.Ser678AlafsTer3
XM_011518141.1:c.1962_1963del XP_011516443.1:p.Ser656AlafsTer3
XM_011518142.1:c.1866_1867del XP_011516444.1:p.Ser624AlafsTer3
XM_011518143.1:c.1860_1861del XP_011516445.1:p.Ser622AlafsTer3
XM_011518145.1:c.1719_1720del XP_011516447.1:p.Ser575AlafsTer3
XM_011518147.1:c.1047_1048del XP_011516449.1:p.Ser351AlafsTer3
XR_929703.1:n.2351_2352del
NM_001353193.1:c.2175_2176del NP_001340122.1:p.Ser727AlafsTer3
NM_001353194.1:c.1947_1948del NP_001340123.1:p.Ser651AlafsTer3
NM_001353195.1:c.1758_1759del NP_001340124.1:p.Ser588AlafsTer3
NM_001353196.1:c.2019_2020del NP_001340125.1:p.Ser675AlafsTer3
NM_001353197.1:c.2013_2014del NP_001340126.1:p.Ser673AlafsTer3
NM_001353198.1:c.2013_2014del NP_001340127.1:p.Ser673AlafsTer3
NM_001353199.1:c.1824_1825del NP_001340128.1:p.Ser610AlafsTer3
NM_001353200.1:c.1653_1654del NP_001340129.1:p.Ser553AlafsTer3
NR_148391.1:n.2159_2160del
NR_148392.1:n.2377_2378del
NR_148393.1:n.2298_2299del
NR_148394.1:n.2052_2053del
NR_148395.1:n.2450_2451del
NR_148396.1:n.2084_2085del
NR_148397.1:n.2209_2210del
NR_148398.1:n.2164_2165del
NR_148399.1:n.2690_2691del
NR_148400.1:n.2289_2290del
XM_005272162.3:c.978_979del XP_005272219.1:p.Ser328AlafsTer3
XM_006716932.2:c.1824_1825del XP_006716995.1:p.Ser610AlafsTer3
XM_011518140.2:c.2028_2029del XP_011516442.1:p.Ser678AlafsTer3
XM_011518141.2:c.1962_1963del XP_011516443.1:p.Ser656AlafsTer3
XM_011518142.2:c.1866_1867del XP_011516444.1:p.Ser624AlafsTer3
XM_011518143.2:c.1860_1861del XP_011516445.1:p.Ser622AlafsTer3
XM_011518145.2:c.1719_1720del XP_011516447.1:p.Ser575AlafsTer3
XM_017014205.2:c.978_979del XP_016869694.1:p.Ser328AlafsTer3
XM_024447380.1:c.978_979del XP_024303148.1:p.Ser328AlafsTer3
XM_024447381.1:c.1284_1285del XP_024303149.1:p.Ser430AlafsTer3
XM_024447382.1:c.978_979del XP_024303150.1:p.Ser328AlafsTer3
XR_001746160.2:n.2279_2280del
XR_001746162.2:n.2484_2485del
XR_001746164.1:n.2201_2202del
XR_001746166.2:n.2496_2497del
NM_001077365.2:c.2109_2110del MANE Select NP_001070833.1:p.Ser705AlafsTer3
NM_001077366.2:c.1947_1948del NP_001070834.1:p.Ser651AlafsTer3
NM_001136113.2:c.2109_2110del NP_001129585.1:p.Ser705AlafsTer3
NM_001136114.2:c.1758_1759del NP_001129586.1:p.Ser588AlafsTer3
NM_001353193.2:c.2175_2176del NP_001340122.2:p.Ser727AlafsTer3
NM_001353194.2:c.1947_1948del NP_001340123.1:p.Ser651AlafsTer3
NM_001353195.2:c.1758_1759del NP_001340124.1:p.Ser588AlafsTer3
NM_001353196.2:c.2019_2020del NP_001340125.1:p.Ser675AlafsTer3
NM_001353197.2:c.2013_2014del NP_001340126.2:p.Ser673AlafsTer3
NM_001353198.2:c.2013_2014del NP_001340127.2:p.Ser673AlafsTer3
NM_001353199.2:c.1824_1825del NP_001340128.2:p.Ser610AlafsTer3
NM_001353200.2:c.1653_1654del NP_001340129.1:p.Ser553AlafsTer3
NM_001374689.1:c.2097_2098del NP_001361618.1:p.Ser701AlafsTer3
NM_001374690.1:c.1890_1891del NP_001361619.1:p.Ser632AlafsTer3
NM_001374691.1:c.1758_1759del NP_001361620.1:p.Ser588AlafsTer3
NM_001374692.1:c.1758_1759del NP_001361621.1:p.Ser588AlafsTer3
NM_001374693.1:c.1758_1759del NP_001361622.1:p.Ser588AlafsTer3
NM_001374695.1:c.1719_1720del NP_001361624.1:p.Ser575AlafsTer3
NM_007171.4:c.2175_2176del NP_009102.4:p.Ser727AlafsTer3
NR_148391.2:n.2143_2144del
NR_148392.2:n.2361_2362del
NR_148393.2:n.2282_2283del
NR_148394.2:n.2036_2037del
NR_148395.2:n.2434_2435del
NR_148396.2:n.2068_2069del
NR_148397.2:n.2193_2194del
NR_148398.2:n.2148_2149del
NR_148399.2:n.2674_2675del
NR_148400.2:n.2273_2274del