Canonical Allele Identifier: CA1881760295
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523023_131523027delinsTACGG , CM000671.2:g.131523023_131523027delinsTACGG GRCh38
NC_000009.11:g.134398410_134398414delinsTACGG , CM000671.1:g.134398410_134398414delinsTACGG GRCh37
NC_000009.10:g.133388231_133388235delinsTACGG NCBI36
NG_008896.1:g.25122_25126delinsTACGG
NG_008896.2:g.25122_25126delinsTACGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1933_1937delinsTACGG ENSP00000343034.7:p.Tyr645=
ENST00000404875.7:n.2635_2639delinsTACGG
ENST00000423007.6:c.2152_2156delinsTACGG ENSP00000404119.2:p.Tyr718=
ENST00000677295.2:c.*2439_*2443delinsTACGG ENSP00000504346.2:n.*2439_*2443delinsTACGG
ENST00000678264.2:c.*2278_*2282delinsTACGG ENSP00000503157.2:n.*2278_*2282delinsTACGG
ENST00000682070.1:n.2405_2409delinsTACGG
ENST00000682639.1:c.92_96delinsTACGG
ENST00000682813.1:n.2492_2496delinsTACGG
ENST00000683231.1:c.92_96delinsTACGG
ENST00000683392.1:n.4687_4691delinsTACGG
ENST00000683712.1:n.2500_2504delinsTACGG
ENST00000683900.1:n.3995_3999delinsTACGG
ENST00000684062.1:n.2761_2765delinsTACGG
ENST00000684399.1:c.92_96delinsTACGG
ENST00000684579.1:n.3941_3945delinsTACGG
ENST00000341012.12:c.1933_1937delinsTACGG ENSP00000343034.7:p.Tyr645=
ENST00000372220.5:c.964_968delinsTACGG ENSP00000361294.5:p.Tyr322=
ENST00000372228.9:c.2161_2165delinsTACGG ENSP00000361302.3:p.Tyr721=
ENST00000402686.8:c.2095_2099delinsTACGG MANE Select ENSP00000385797.4:p.Tyr699=
ENST00000676640.1:c.2095_2099delinsTACGG ENSP00000503281.1:p.Tyr699=
ENST00000676803.1:c.1156_1160delinsTACGG ENSP00000503093.1:p.Tyr386=
ENST00000676835.1:c.*1310_*1314delinsTACGG ENSP00000502911.1:n.*1310_*1314delinsTACGG
ENST00000677029.1:c.1639_1643delinsTACGG ENSP00000502936.1:p.Tyr547=
ENST00000677099.1:c.*1805_*1809delinsTACGG ENSP00000504553.1:n.*1805_*1809delinsTACGG
ENST00000677216.1:c.1744_1748delinsTACGG ENSP00000503772.1:p.Tyr582=
ENST00000677295.1:c.*1317_*1321delinsTACGG ENSP00000504346.1:n.*1317_*1321delinsTACGG
ENST00000677444.1:c.2040_2044delinsTACGG
ENST00000677586.1:n.1462_1466delinsTACGG
ENST00000677626.1:c.1744_1748delinsTACGG ENSP00000503552.1:p.Tyr582=
ENST00000677853.1:c.*1103_*1107delinsTACGG ENSP00000503488.1:n.*1103_*1107delinsTACGG
ENST00000678264.1:c.*1472_*1476delinsTACGG ENSP00000503157.1:n.*1472_*1476delinsTACGG
ENST00000678303.1:c.2005_2009delinsTACGG ENSP00000503696.1:p.Tyr669=
ENST00000678366.1:c.*2344_*2348delinsTACGG ENSP00000504353.1:n.*2344_*2348delinsTACGG
ENST00000678546.1:c.*2040_*2044delinsTACGG ENSP00000503062.1:n.*2040_*2044delinsTACGG
ENST00000678548.1:c.*2234_*2238delinsTACGG ENSP00000503934.1:n.*2234_*2238delinsTACGG
ENST00000678626.1:n.1931_1935delinsTACGG
ENST00000678739.1:c.*2261_*2265delinsTACGG ENSP00000503806.1:n.*2261_*2265delinsTACGG
ENST00000678833.1:c.*1847_*1851delinsTACGG ENSP00000503893.1:n.*1847_*1851delinsTACGG
ENST00000679023.1:c.1933_1937delinsTACGG ENSP00000503718.1:p.Tyr645=
ENST00000679076.1:c.1714_1718delinsTACGG
ENST00000679111.1:c.*851_*855delinsTACGG ENSP00000504257.1:n.*851_*855delinsTACGG
ENST00000679189.1:c.1744_1748delinsTACGG ENSP00000503356.1:p.Tyr582=
ENST00000341012.11:c.1933_1937delinsTACGG ENSP00000343034.7:p.Tyr645=
ENST00000372220.4:c.958_962delinsTACGG ENSP00000361294.4:p.Tyr320=
ENST00000372228.7:c.2161_2165delinsTACGG ENSP00000361302.3:p.Tyr721=
ENST00000402686.7:c.2095_2099delinsTACGG ENSP00000385797.3:p.Tyr699=
ENST00000404875.6:c.1744_1748delinsTACGG ENSP00000384531.2:p.Tyr582=
ENST00000423007.5:c.2095_2099delinsTACGG ENSP00000404119.1:p.Tyr699=
ENST00000485278.5:n.2645_2649delinsTACGG
NM_001077365.1:c.2095_2099delinsTACGG NP_001070833.1:p.Tyr699=
NM_001077366.1:c.1933_1937delinsTACGG NP_001070834.1:p.Tyr645=
NM_001136113.1:c.2095_2099delinsTACGG NP_001129585.1:p.Tyr699=
NM_001136114.1:c.1744_1748delinsTACGG NP_001129586.1:p.Tyr582=
NM_007171.3:c.2161_2165delinsTACGG NP_009102.3:p.Tyr721=
XM_005272156.1:c.2161_2165delinsTACGG XP_005272213.1:p.Tyr721=
XM_005272158.1:c.1999_2003delinsTACGG XP_005272215.1:p.Tyr667=
XM_005272159.1:c.1810_1814delinsTACGG XP_005272216.1:p.Tyr604=
XM_005272162.1:c.964_968delinsTACGG XP_005272219.1:p.Tyr322=
XM_006716932.1:c.1810_1814delinsTACGG XP_006716995.1:p.Tyr604=
XM_011518140.1:c.2014_2018delinsTACGG XP_011516442.1:p.Tyr672=
XM_011518141.1:c.1948_1952delinsTACGG XP_011516443.1:p.Tyr650=
XM_011518142.1:c.1852_1856delinsTACGG XP_011516444.1:p.Tyr618=
XM_011518143.1:c.1846_1850delinsTACGG XP_011516445.1:p.Tyr616=
XM_011518145.1:c.1705_1709delinsTACGG XP_011516447.1:p.Tyr569=
XM_011518147.1:c.1033_1037delinsTACGG XP_011516449.1:p.Tyr345=
XR_929703.1:n.2337_2341delinsTACGG
NM_001353193.1:c.2161_2165delinsTACGG NP_001340122.1:p.Tyr721=
NM_001353194.1:c.1933_1937delinsTACGG NP_001340123.1:p.Tyr645=
NM_001353195.1:c.1744_1748delinsTACGG NP_001340124.1:p.Tyr582=
NM_001353196.1:c.2005_2009delinsTACGG NP_001340125.1:p.Tyr669=
NM_001353197.1:c.1999_2003delinsTACGG NP_001340126.1:p.Tyr667=
NM_001353198.1:c.1999_2003delinsTACGG NP_001340127.1:p.Tyr667=
NM_001353199.1:c.1810_1814delinsTACGG NP_001340128.1:p.Tyr604=
NM_001353200.1:c.1639_1643delinsTACGG NP_001340129.1:p.Tyr547=
NR_148391.1:n.2145_2149delinsTACGG
NR_148392.1:n.2363_2367delinsTACGG
NR_148393.1:n.2284_2288delinsTACGG
NR_148394.1:n.2038_2042delinsTACGG
NR_148395.1:n.2436_2440delinsTACGG
NR_148396.1:n.2070_2074delinsTACGG
NR_148397.1:n.2195_2199delinsTACGG
NR_148398.1:n.2150_2154delinsTACGG
NR_148399.1:n.2676_2680delinsTACGG
NR_148400.1:n.2275_2279delinsTACGG
XM_005272162.3:c.964_968delinsTACGG XP_005272219.1:p.Tyr322=
XM_006716932.2:c.1810_1814delinsTACGG XP_006716995.1:p.Tyr604=
XM_011518140.2:c.2014_2018delinsTACGG XP_011516442.1:p.Tyr672=
XM_011518141.2:c.1948_1952delinsTACGG XP_011516443.1:p.Tyr650=
XM_011518142.2:c.1852_1856delinsTACGG XP_011516444.1:p.Tyr618=
XM_011518143.2:c.1846_1850delinsTACGG XP_011516445.1:p.Tyr616=
XM_011518145.2:c.1705_1709delinsTACGG XP_011516447.1:p.Tyr569=
XM_017014205.2:c.964_968delinsTACGG XP_016869694.1:p.Tyr322=
XM_024447380.1:c.964_968delinsTACGG XP_024303148.1:p.Tyr322=
XM_024447381.1:c.1270_1274delinsTACGG XP_024303149.1:p.Tyr424=
XM_024447382.1:c.964_968delinsTACGG XP_024303150.1:p.Tyr322=
XR_001746160.2:n.2265_2269delinsTACGG
XR_001746162.2:n.2470_2474delinsTACGG
XR_001746164.1:n.2187_2191delinsTACGG
XR_001746166.2:n.2482_2486delinsTACGG
NM_001077365.2:c.2095_2099delinsTACGG MANE Select NP_001070833.1:p.Tyr699=
NM_001077366.2:c.1933_1937delinsTACGG NP_001070834.1:p.Tyr645=
NM_001136113.2:c.2095_2099delinsTACGG NP_001129585.1:p.Tyr699=
NM_001136114.2:c.1744_1748delinsTACGG NP_001129586.1:p.Tyr582=
NM_001353193.2:c.2161_2165delinsTACGG NP_001340122.2:p.Tyr721=
NM_001353194.2:c.1933_1937delinsTACGG NP_001340123.1:p.Tyr645=
NM_001353195.2:c.1744_1748delinsTACGG NP_001340124.1:p.Tyr582=
NM_001353196.2:c.2005_2009delinsTACGG NP_001340125.1:p.Tyr669=
NM_001353197.2:c.1999_2003delinsTACGG NP_001340126.2:p.Tyr667=
NM_001353198.2:c.1999_2003delinsTACGG NP_001340127.2:p.Tyr667=
NM_001353199.2:c.1810_1814delinsTACGG NP_001340128.2:p.Tyr604=
NM_001353200.2:c.1639_1643delinsTACGG NP_001340129.1:p.Tyr547=
NM_001374689.1:c.2083_2087delinsTACGG NP_001361618.1:p.Tyr695=
NM_001374690.1:c.1876_1880delinsTACGG NP_001361619.1:p.Tyr626=
NM_001374691.1:c.1744_1748delinsTACGG NP_001361620.1:p.Tyr582=
NM_001374692.1:c.1744_1748delinsTACGG NP_001361621.1:p.Tyr582=
NM_001374693.1:c.1744_1748delinsTACGG NP_001361622.1:p.Tyr582=
NM_001374695.1:c.1705_1709delinsTACGG NP_001361624.1:p.Tyr569=
NM_007171.4:c.2161_2165delinsTACGG NP_009102.4:p.Tyr721=
NR_148391.2:n.2129_2133delinsTACGG
NR_148392.2:n.2347_2351delinsTACGG
NR_148393.2:n.2268_2272delinsTACGG
NR_148394.2:n.2022_2026delinsTACGG
NR_148395.2:n.2420_2424delinsTACGG
NR_148396.2:n.2054_2058delinsTACGG
NR_148397.2:n.2179_2183delinsTACGG
NR_148398.2:n.2134_2138delinsTACGG
NR_148399.2:n.2660_2664delinsTACGG
NR_148400.2:n.2259_2263delinsTACGG