Canonical Allele Identifier: CA2531579403
Gene: POMT1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521582_131521587del , CM000671.2:g.131521582_131521587del GRCh38
NC_000009.11:g.134396969_134396974del , CM000671.1:g.134396969_134396974del GRCh37
NC_000009.10:g.133386790_133386795del NCBI36
NG_008896.1:g.23681_23686del
NG_008896.2:g.23681_23686del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1663+110_1663+115del ENSP00000343034.7:n.1663+110_1663+115del
ENST00000404875.7:n.2365+110_2365+115del
ENST00000423007.6:c.1882+110_1882+115del ENSP00000404119.2:n.1882+110_1882+115del
ENST00000677295.2:c.*2169+110_*2169+115del ENSP00000504346.2:n.*2169+110_*2169+115del
ENST00000678264.2:c.*2008+110_*2008+115del ENSP00000503157.2:n.*2008+110_*2008+115del
ENST00000682070.1:n.2290+110_2290+115del
ENST00000682813.1:n.2229+110_2229+115del
ENST00000683392.1:n.4572+110_4572+115del
ENST00000683712.1:n.2230+110_2230+115del
ENST00000683900.1:n.3725+110_3725+115del
ENST00000684062.1:n.2491+110_2491+115del
ENST00000684579.1:n.3671+110_3671+115del
ENST00000684679.1:n.1052+110_1052+115del
ENST00000341012.12:c.1663+110_1663+115del ENSP00000343034.7:n.1663+110_1663+115del
ENST00000372220.5:c.694+110_694+115del ENSP00000361294.5:n.694+110_694+115del
ENST00000372228.9:c.1891+110_1891+115del ENSP00000361302.3:n.1891+110_1891+115del
ENST00000402686.8:c.1825+110_1825+115del MANE Select ENSP00000385797.4:n.1825+110_1825+115del
ENST00000676640.1:c.1825+110_1825+115del ENSP00000503281.1:n.1825+110_1825+115del
ENST00000676803.1:c.886+110_886+115del ENSP00000503093.1:n.886+110_886+115del
ENST00000676835.1:c.*1040+110_*1040+115del ENSP00000502911.1:n.*1040+110_*1040+115del
ENST00000677029.1:c.1369+110_1369+115del ENSP00000502936.1:n.1369+110_1369+115del
ENST00000677099.1:c.*1535+110_*1535+115del ENSP00000504553.1:n.*1535+110_*1535+115del
ENST00000677216.1:c.1474+110_1474+115del ENSP00000503772.1:n.1474+110_1474+115del
ENST00000677221.1:n.850+110_850+115del
ENST00000677295.1:c.*1202+110_*1202+115del ENSP00000504346.1:n.*1202+110_*1202+115del
ENST00000677444.1:c.1770+110_1770+115del
ENST00000677586.1:n.1192+110_1192+115del
ENST00000677626.1:c.1474+110_1474+115del ENSP00000503552.1:n.1474+110_1474+115del
ENST00000677853.1:c.*833+110_*833+115del ENSP00000503488.1:n.*833+110_*833+115del
ENST00000678202.1:n.984+110_984+115del
ENST00000678264.1:c.*1202+110_*1202+115del ENSP00000503157.1:n.*1202+110_*1202+115del
ENST00000678303.1:c.1735+110_1735+115del ENSP00000503696.1:n.1735+110_1735+115del
ENST00000678366.1:c.*2074+110_*2074+115del ENSP00000504353.1:n.*2074+110_*2074+115del
ENST00000678546.1:c.*1770+110_*1770+115del ENSP00000503062.1:n.*1770+110_*1770+115del
ENST00000678548.1:c.*1897+110_*1897+115del ENSP00000503934.1:n.*1897+110_*1897+115del
ENST00000678626.1:n.1661+110_1661+115del
ENST00000678739.1:c.*2146+110_*2146+115del ENSP00000503806.1:n.*2146+110_*2146+115del
ENST00000678833.1:c.*1577+110_*1577+115del ENSP00000503893.1:n.*1577+110_*1577+115del
ENST00000679023.1:c.1663+110_1663+115del ENSP00000503718.1:n.1663+110_1663+115del
ENST00000679076.1:c.1444+110_1444+115del
ENST00000679111.1:c.*581+110_*581+115del ENSP00000504257.1:n.*581+110_*581+115del
ENST00000679189.1:c.1474+110_1474+115del ENSP00000503356.1:n.1474+110_1474+115del
ENST00000341012.11:c.1663+110_1663+115del ENSP00000343034.7:n.1663+110_1663+115del
ENST00000372220.4:c.688+110_688+115del ENSP00000361294.4:n.688+110_688+115del
ENST00000372228.7:c.1891+110_1891+115del ENSP00000361302.3:n.1891+110_1891+115del
ENST00000402686.7:c.1825+110_1825+115del ENSP00000385797.3:n.1825+110_1825+115del
ENST00000404875.6:c.1474+110_1474+115del ENSP00000384531.2:n.1474+110_1474+115del
ENST00000423007.5:c.1825+110_1825+115del ENSP00000404119.1:n.1825+110_1825+115del
ENST00000485278.5:n.2375+110_2375+115del
ENST00000494883.1:n.368+110_368+115del
NM_001077365.1:c.1825+110_1825+115del NP_001070833.1:n.1825+110_1825+115del
NM_001077366.1:c.1663+110_1663+115del NP_001070834.1:n.1663+110_1663+115del
NM_001136113.1:c.1825+110_1825+115del NP_001129585.1:n.1825+110_1825+115del
NM_001136114.1:c.1474+110_1474+115del NP_001129586.1:n.1474+110_1474+115del
NM_007171.3:c.1891+110_1891+115del NP_009102.3:n.1891+110_1891+115del
XM_005272156.1:c.1891+110_1891+115del XP_005272213.1:n.1891+110_1891+115del
XM_005272158.1:c.1729+110_1729+115del XP_005272215.1:n.1729+110_1729+115del
XM_005272159.1:c.1540+110_1540+115del XP_005272216.1:n.1540+110_1540+115del
XM_005272162.1:c.694+110_694+115del XP_005272219.1:n.694+110_694+115del
XM_006716932.1:c.1540+110_1540+115del XP_006716995.1:n.1540+110_1540+115del
XM_011518140.1:c.1744+110_1744+115del XP_011516442.1:n.1744+110_1744+115del
XM_011518141.1:c.1678+110_1678+115del XP_011516443.1:n.1678+110_1678+115del
XM_011518142.1:c.1582+110_1582+115del XP_011516444.1:n.1582+110_1582+115del
XM_011518143.1:c.1576+110_1576+115del XP_011516445.1:n.1576+110_1576+115del
XM_011518145.1:c.1435+110_1435+115del XP_011516447.1:n.1435+110_1435+115del
XM_011518147.1:c.763+110_763+115del XP_011516449.1:n.763+110_763+115del
XR_929703.1:n.2067+110_2067+115del
NM_001353193.1:c.1891+110_1891+115del NP_001340122.1:n.1891+110_1891+115del
NM_001353194.1:c.1663+110_1663+115del NP_001340123.1:n.1663+110_1663+115del
NM_001353195.1:c.1474+110_1474+115del NP_001340124.1:n.1474+110_1474+115del
NM_001353196.1:c.1735+110_1735+115del NP_001340125.1:n.1735+110_1735+115del
NM_001353197.1:c.1729+110_1729+115del NP_001340126.1:n.1729+110_1729+115del
NM_001353198.1:c.1729+110_1729+115del NP_001340127.1:n.1729+110_1729+115del
NM_001353199.1:c.1540+110_1540+115del NP_001340128.1:n.1540+110_1540+115del
NM_001353200.1:c.1369+110_1369+115del NP_001340129.1:n.1369+110_1369+115del
NR_148391.1:n.1875+110_1875+115del
NR_148392.1:n.2093+110_2093+115del
NR_148393.1:n.2014+110_2014+115del
NR_148394.1:n.1768+110_1768+115del
NR_148395.1:n.2166+110_2166+115del
NR_148396.1:n.1800+110_1800+115del
NR_148397.1:n.1925+110_1925+115del
NR_148398.1:n.1880+110_1880+115del
NR_148399.1:n.2406+110_2406+115del
NR_148400.1:n.2005+110_2005+115del
XM_005272162.3:c.694+110_694+115del XP_005272219.1:n.694+110_694+115del
XM_006716932.2:c.1540+110_1540+115del XP_006716995.1:n.1540+110_1540+115del
XM_011518140.2:c.1744+110_1744+115del XP_011516442.1:n.1744+110_1744+115del
XM_011518141.2:c.1678+110_1678+115del XP_011516443.1:n.1678+110_1678+115del
XM_011518142.2:c.1582+110_1582+115del XP_011516444.1:n.1582+110_1582+115del
XM_011518143.2:c.1576+110_1576+115del XP_011516445.1:n.1576+110_1576+115del
XM_011518145.2:c.1435+110_1435+115del XP_011516447.1:n.1435+110_1435+115del
XM_017014205.2:c.694+110_694+115del XP_016869694.1:n.694+110_694+115del
XM_024447380.1:c.694+110_694+115del XP_024303148.1:n.694+110_694+115del
XM_024447381.1:c.1000+110_1000+115del XP_024303149.1:n.1000+110_1000+115del
XM_024447382.1:c.694+110_694+115del XP_024303150.1:n.694+110_694+115del
XR_001746160.2:n.1995+110_1995+115del
XR_001746162.2:n.2200+110_2200+115del
XR_001746164.1:n.1917+110_1917+115del
XR_001746166.2:n.2212+110_2212+115del
NM_001077365.2:c.1825+110_1825+115del MANE Select NP_001070833.1:n.1825+110_1825+115del
NM_001077366.2:c.1663+110_1663+115del NP_001070834.1:n.1663+110_1663+115del
NM_001136113.2:c.1825+110_1825+115del NP_001129585.1:n.1825+110_1825+115del
NM_001136114.2:c.1474+110_1474+115del NP_001129586.1:n.1474+110_1474+115del
NM_001353193.2:c.1891+110_1891+115del NP_001340122.2:n.1891+110_1891+115del
NM_001353194.2:c.1663+110_1663+115del NP_001340123.1:n.1663+110_1663+115del
NM_001353195.2:c.1474+110_1474+115del NP_001340124.1:n.1474+110_1474+115del
NM_001353196.2:c.1735+110_1735+115del NP_001340125.1:n.1735+110_1735+115del
NM_001353197.2:c.1729+110_1729+115del NP_001340126.2:n.1729+110_1729+115del
NM_001353198.2:c.1729+110_1729+115del NP_001340127.2:n.1729+110_1729+115del
NM_001353199.2:c.1540+110_1540+115del NP_001340128.2:n.1540+110_1540+115del
NM_001353200.2:c.1369+110_1369+115del NP_001340129.1:n.1369+110_1369+115del
NM_001374689.1:c.1813+110_1813+115del NP_001361618.1:n.1813+110_1813+115del
NM_001374690.1:c.1606+110_1606+115del NP_001361619.1:n.1606+110_1606+115del
NM_001374691.1:c.1474+110_1474+115del NP_001361620.1:n.1474+110_1474+115del
NM_001374692.1:c.1474+110_1474+115del NP_001361621.1:n.1474+110_1474+115del
NM_001374693.1:c.1474+110_1474+115del NP_001361622.1:n.1474+110_1474+115del
NM_001374695.1:c.1435+110_1435+115del NP_001361624.1:n.1435+110_1435+115del
NM_007171.4:c.1891+110_1891+115del NP_009102.4:n.1891+110_1891+115del
NR_148391.2:n.1859+110_1859+115del
NR_148392.2:n.2077+110_2077+115del
NR_148393.2:n.1998+110_1998+115del
NR_148394.2:n.1752+110_1752+115del
NR_148395.2:n.2150+110_2150+115del
NR_148396.2:n.1784+110_1784+115del
NR_148397.2:n.1909+110_1909+115del
NR_148398.2:n.1864+110_1864+115del
NR_148399.2:n.2390+110_2390+115del
NR_148400.2:n.1989+110_1989+115del
Search 100 bp 5'
Search 100 bp 3'