Canonical Allele Identifier: CA2692219275
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v4: 9-131521502-CTTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521505_131521507del , CM000671.2:g.131521505_131521507del GRCh38
NC_000009.11:g.134396892_134396894del , CM000671.1:g.134396892_134396894del GRCh37
NC_000009.10:g.133386713_133386715del NCBI36
NG_008896.1:g.23604_23606del
NG_008896.2:g.23604_23606del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1663+33_1663+35del ENSP00000343034.7:n.1663+33_1663+35del
ENST00000404875.7:n.2365+33_2365+35del
ENST00000423007.6:c.1882+33_1882+35del ENSP00000404119.2:n.1882+33_1882+35del
ENST00000677295.2:c.*2169+33_*2169+35del ENSP00000504346.2:n.*2169+33_*2169+35del
ENST00000678264.2:c.*2008+33_*2008+35del ENSP00000503157.2:n.*2008+33_*2008+35del
ENST00000682070.1:n.2290+33_2290+35del
ENST00000682813.1:n.2229+33_2229+35del
ENST00000683392.1:n.4572+33_4572+35del
ENST00000683712.1:n.2230+33_2230+35del
ENST00000683900.1:n.3725+33_3725+35del
ENST00000684062.1:n.2491+33_2491+35del
ENST00000684579.1:n.3671+33_3671+35del
ENST00000684679.1:n.1052+33_1052+35del
ENST00000341012.12:c.1663+33_1663+35del ENSP00000343034.7:n.1663+33_1663+35del
ENST00000372220.5:c.694+33_694+35del ENSP00000361294.5:n.694+33_694+35del
ENST00000372228.9:c.1891+33_1891+35del ENSP00000361302.3:n.1891+33_1891+35del
ENST00000402686.8:c.1825+33_1825+35del MANE Select ENSP00000385797.4:n.1825+33_1825+35del
ENST00000676640.1:c.1825+33_1825+35del ENSP00000503281.1:n.1825+33_1825+35del
ENST00000676803.1:c.886+33_886+35del ENSP00000503093.1:n.886+33_886+35del
ENST00000676835.1:c.*1040+33_*1040+35del ENSP00000502911.1:n.*1040+33_*1040+35del
ENST00000677029.1:c.1369+33_1369+35del ENSP00000502936.1:n.1369+33_1369+35del
ENST00000677099.1:c.*1535+33_*1535+35del ENSP00000504553.1:n.*1535+33_*1535+35del
ENST00000677216.1:c.1474+33_1474+35del ENSP00000503772.1:n.1474+33_1474+35del
ENST00000677221.1:n.850+33_850+35del
ENST00000677295.1:c.*1202+33_*1202+35del ENSP00000504346.1:n.*1202+33_*1202+35del
ENST00000677444.1:c.1770+33_1770+35del
ENST00000677586.1:n.1192+33_1192+35del
ENST00000677626.1:c.1474+33_1474+35del ENSP00000503552.1:n.1474+33_1474+35del
ENST00000677853.1:c.*833+33_*833+35del ENSP00000503488.1:n.*833+33_*833+35del
ENST00000678202.1:n.984+33_984+35del
ENST00000678264.1:c.*1202+33_*1202+35del ENSP00000503157.1:n.*1202+33_*1202+35del
ENST00000678303.1:c.1735+33_1735+35del ENSP00000503696.1:n.1735+33_1735+35del
ENST00000678366.1:c.*2074+33_*2074+35del ENSP00000504353.1:n.*2074+33_*2074+35del
ENST00000678546.1:c.*1770+33_*1770+35del ENSP00000503062.1:n.*1770+33_*1770+35del
ENST00000678548.1:c.*1897+33_*1897+35del ENSP00000503934.1:n.*1897+33_*1897+35del
ENST00000678626.1:n.1661+33_1661+35del
ENST00000678739.1:c.*2146+33_*2146+35del ENSP00000503806.1:n.*2146+33_*2146+35del
ENST00000678833.1:c.*1577+33_*1577+35del ENSP00000503893.1:n.*1577+33_*1577+35del
ENST00000679023.1:c.1663+33_1663+35del ENSP00000503718.1:n.1663+33_1663+35del
ENST00000679076.1:c.1444+33_1444+35del
ENST00000679111.1:c.*581+33_*581+35del ENSP00000504257.1:n.*581+33_*581+35del
ENST00000679189.1:c.1474+33_1474+35del ENSP00000503356.1:n.1474+33_1474+35del
ENST00000341012.11:c.1663+33_1663+35del ENSP00000343034.7:n.1663+33_1663+35del
ENST00000372220.4:c.688+33_688+35del ENSP00000361294.4:n.688+33_688+35del
ENST00000372228.7:c.1891+33_1891+35del ENSP00000361302.3:n.1891+33_1891+35del
ENST00000402686.7:c.1825+33_1825+35del ENSP00000385797.3:n.1825+33_1825+35del
ENST00000404875.6:c.1474+33_1474+35del ENSP00000384531.2:n.1474+33_1474+35del
ENST00000423007.5:c.1825+33_1825+35del ENSP00000404119.1:n.1825+33_1825+35del
ENST00000485278.5:n.2375+33_2375+35del
ENST00000494883.1:n.368+33_368+35del
NM_001077365.1:c.1825+33_1825+35del NP_001070833.1:n.1825+33_1825+35del
NM_001077366.1:c.1663+33_1663+35del NP_001070834.1:n.1663+33_1663+35del
NM_001136113.1:c.1825+33_1825+35del NP_001129585.1:n.1825+33_1825+35del
NM_001136114.1:c.1474+33_1474+35del NP_001129586.1:n.1474+33_1474+35del
NM_007171.3:c.1891+33_1891+35del NP_009102.3:n.1891+33_1891+35del
XM_005272156.1:c.1891+33_1891+35del XP_005272213.1:n.1891+33_1891+35del
XM_005272158.1:c.1729+33_1729+35del XP_005272215.1:n.1729+33_1729+35del
XM_005272159.1:c.1540+33_1540+35del XP_005272216.1:n.1540+33_1540+35del
XM_005272162.1:c.694+33_694+35del XP_005272219.1:n.694+33_694+35del
XM_006716932.1:c.1540+33_1540+35del XP_006716995.1:n.1540+33_1540+35del
XM_011518140.1:c.1744+33_1744+35del XP_011516442.1:n.1744+33_1744+35del
XM_011518141.1:c.1678+33_1678+35del XP_011516443.1:n.1678+33_1678+35del
XM_011518142.1:c.1582+33_1582+35del XP_011516444.1:n.1582+33_1582+35del
XM_011518143.1:c.1576+33_1576+35del XP_011516445.1:n.1576+33_1576+35del
XM_011518145.1:c.1435+33_1435+35del XP_011516447.1:n.1435+33_1435+35del
XM_011518147.1:c.763+33_763+35del XP_011516449.1:n.763+33_763+35del
XR_929703.1:n.2067+33_2067+35del
NM_001353193.1:c.1891+33_1891+35del NP_001340122.1:n.1891+33_1891+35del
NM_001353194.1:c.1663+33_1663+35del NP_001340123.1:n.1663+33_1663+35del
NM_001353195.1:c.1474+33_1474+35del NP_001340124.1:n.1474+33_1474+35del
NM_001353196.1:c.1735+33_1735+35del NP_001340125.1:n.1735+33_1735+35del
NM_001353197.1:c.1729+33_1729+35del NP_001340126.1:n.1729+33_1729+35del
NM_001353198.1:c.1729+33_1729+35del NP_001340127.1:n.1729+33_1729+35del
NM_001353199.1:c.1540+33_1540+35del NP_001340128.1:n.1540+33_1540+35del
NM_001353200.1:c.1369+33_1369+35del NP_001340129.1:n.1369+33_1369+35del
NR_148391.1:n.1875+33_1875+35del
NR_148392.1:n.2093+33_2093+35del
NR_148393.1:n.2014+33_2014+35del
NR_148394.1:n.1768+33_1768+35del
NR_148395.1:n.2166+33_2166+35del
NR_148396.1:n.1800+33_1800+35del
NR_148397.1:n.1925+33_1925+35del
NR_148398.1:n.1880+33_1880+35del
NR_148399.1:n.2406+33_2406+35del
NR_148400.1:n.2005+33_2005+35del
XM_005272162.3:c.694+33_694+35del XP_005272219.1:n.694+33_694+35del
XM_006716932.2:c.1540+33_1540+35del XP_006716995.1:n.1540+33_1540+35del
XM_011518140.2:c.1744+33_1744+35del XP_011516442.1:n.1744+33_1744+35del
XM_011518141.2:c.1678+33_1678+35del XP_011516443.1:n.1678+33_1678+35del
XM_011518142.2:c.1582+33_1582+35del XP_011516444.1:n.1582+33_1582+35del
XM_011518143.2:c.1576+33_1576+35del XP_011516445.1:n.1576+33_1576+35del
XM_011518145.2:c.1435+33_1435+35del XP_011516447.1:n.1435+33_1435+35del
XM_017014205.2:c.694+33_694+35del XP_016869694.1:n.694+33_694+35del
XM_024447380.1:c.694+33_694+35del XP_024303148.1:n.694+33_694+35del
XM_024447381.1:c.1000+33_1000+35del XP_024303149.1:n.1000+33_1000+35del
XM_024447382.1:c.694+33_694+35del XP_024303150.1:n.694+33_694+35del
XR_001746160.2:n.1995+33_1995+35del
XR_001746162.2:n.2200+33_2200+35del
XR_001746164.1:n.1917+33_1917+35del
XR_001746166.2:n.2212+33_2212+35del
NM_001077365.2:c.1825+33_1825+35del MANE Select NP_001070833.1:n.1825+33_1825+35del
NM_001077366.2:c.1663+33_1663+35del NP_001070834.1:n.1663+33_1663+35del
NM_001136113.2:c.1825+33_1825+35del NP_001129585.1:n.1825+33_1825+35del
NM_001136114.2:c.1474+33_1474+35del NP_001129586.1:n.1474+33_1474+35del
NM_001353193.2:c.1891+33_1891+35del NP_001340122.2:n.1891+33_1891+35del
NM_001353194.2:c.1663+33_1663+35del NP_001340123.1:n.1663+33_1663+35del
NM_001353195.2:c.1474+33_1474+35del NP_001340124.1:n.1474+33_1474+35del
NM_001353196.2:c.1735+33_1735+35del NP_001340125.1:n.1735+33_1735+35del
NM_001353197.2:c.1729+33_1729+35del NP_001340126.2:n.1729+33_1729+35del
NM_001353198.2:c.1729+33_1729+35del NP_001340127.2:n.1729+33_1729+35del
NM_001353199.2:c.1540+33_1540+35del NP_001340128.2:n.1540+33_1540+35del
NM_001353200.2:c.1369+33_1369+35del NP_001340129.1:n.1369+33_1369+35del
NM_001374689.1:c.1813+33_1813+35del NP_001361618.1:n.1813+33_1813+35del
NM_001374690.1:c.1606+33_1606+35del NP_001361619.1:n.1606+33_1606+35del
NM_001374691.1:c.1474+33_1474+35del NP_001361620.1:n.1474+33_1474+35del
NM_001374692.1:c.1474+33_1474+35del NP_001361621.1:n.1474+33_1474+35del
NM_001374693.1:c.1474+33_1474+35del NP_001361622.1:n.1474+33_1474+35del
NM_001374695.1:c.1435+33_1435+35del NP_001361624.1:n.1435+33_1435+35del
NM_007171.4:c.1891+33_1891+35del NP_009102.4:n.1891+33_1891+35del
NR_148391.2:n.1859+33_1859+35del
NR_148392.2:n.2077+33_2077+35del
NR_148393.2:n.1998+33_1998+35del
NR_148394.2:n.1752+33_1752+35del
NR_148395.2:n.2150+33_2150+35del
NR_148396.2:n.1784+33_1784+35del
NR_148397.2:n.1909+33_1909+35del
NR_148398.2:n.1864+33_1864+35del
NR_148399.2:n.2390+33_2390+35del
NR_148400.2:n.1989+33_1989+35del
Search 100 bp 5'
Search 100 bp 3'