Canonical Allele Identifier: CA2692219342
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521584_131521585insTAGG , CM000671.2:g.131521584_131521585insTAGG GRCh38
NC_000009.11:g.134396971_134396972insTAGG , CM000671.1:g.134396971_134396972insTAGG GRCh37
NC_000009.10:g.133386792_133386793insTAGG NCBI36
NG_008896.1:g.23683_23684insTAGG
NG_008896.2:g.23683_23684insTAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1663+112_1663+113insTAGG ENSP00000343034.7:n.1663+112_1663+113insTAGG
ENST00000404875.7:n.2365+112_2365+113insTAGG
ENST00000423007.6:c.1882+112_1882+113insTAGG ENSP00000404119.2:n.1882+112_1882+113insTAGG
ENST00000677295.2:c.*2169+112_*2169+113insTAGG ENSP00000504346.2:n.*2169+112_*2169+113insTAGG
ENST00000678264.2:c.*2008+112_*2008+113insTAGG ENSP00000503157.2:n.*2008+112_*2008+113insTAGG
ENST00000682070.1:n.2290+112_2290+113insTAGG
ENST00000682813.1:n.2229+112_2229+113insTAGG
ENST00000683392.1:n.4572+112_4572+113insTAGG
ENST00000683712.1:n.2230+112_2230+113insTAGG
ENST00000683900.1:n.3725+112_3725+113insTAGG
ENST00000684062.1:n.2491+112_2491+113insTAGG
ENST00000684579.1:n.3671+112_3671+113insTAGG
ENST00000684679.1:n.1052+112_1052+113insTAGG
ENST00000341012.12:c.1663+112_1663+113insTAGG ENSP00000343034.7:n.1663+112_1663+113insTAGG
ENST00000372220.5:c.694+112_694+113insTAGG ENSP00000361294.5:n.694+112_694+113insTAGG
ENST00000372228.9:c.1891+112_1891+113insTAGG ENSP00000361302.3:n.1891+112_1891+113insTAGG
ENST00000402686.8:c.1825+112_1825+113insTAGG MANE Select ENSP00000385797.4:n.1825+112_1825+113insTAGG
ENST00000676640.1:c.1825+112_1825+113insTAGG ENSP00000503281.1:n.1825+112_1825+113insTAGG
ENST00000676803.1:c.886+112_886+113insTAGG ENSP00000503093.1:n.886+112_886+113insTAGG
ENST00000676835.1:c.*1040+112_*1040+113insTAGG ENSP00000502911.1:n.*1040+112_*1040+113insTAGG
ENST00000677029.1:c.1369+112_1369+113insTAGG ENSP00000502936.1:n.1369+112_1369+113insTAGG
ENST00000677099.1:c.*1535+112_*1535+113insTAGG ENSP00000504553.1:n.*1535+112_*1535+113insTAGG
ENST00000677216.1:c.1474+112_1474+113insTAGG ENSP00000503772.1:n.1474+112_1474+113insTAGG
ENST00000677221.1:n.850+112_850+113insTAGG
ENST00000677295.1:c.*1202+112_*1202+113insTAGG ENSP00000504346.1:n.*1202+112_*1202+113insTAGG
ENST00000677444.1:c.1770+112_1770+113insTAGG
ENST00000677586.1:n.1192+112_1192+113insTAGG
ENST00000677626.1:c.1474+112_1474+113insTAGG ENSP00000503552.1:n.1474+112_1474+113insTAGG
ENST00000677853.1:c.*833+112_*833+113insTAGG ENSP00000503488.1:n.*833+112_*833+113insTAGG
ENST00000678202.1:n.984+112_984+113insTAGG
ENST00000678264.1:c.*1202+112_*1202+113insTAGG ENSP00000503157.1:n.*1202+112_*1202+113insTAGG
ENST00000678303.1:c.1735+112_1735+113insTAGG ENSP00000503696.1:n.1735+112_1735+113insTAGG
ENST00000678366.1:c.*2074+112_*2074+113insTAGG ENSP00000504353.1:n.*2074+112_*2074+113insTAGG
ENST00000678546.1:c.*1770+112_*1770+113insTAGG ENSP00000503062.1:n.*1770+112_*1770+113insTAGG
ENST00000678548.1:c.*1897+112_*1897+113insTAGG ENSP00000503934.1:n.*1897+112_*1897+113insTAGG
ENST00000678626.1:n.1661+112_1661+113insTAGG
ENST00000678739.1:c.*2146+112_*2146+113insTAGG ENSP00000503806.1:n.*2146+112_*2146+113insTAGG
ENST00000678833.1:c.*1577+112_*1577+113insTAGG ENSP00000503893.1:n.*1577+112_*1577+113insTAGG
ENST00000679023.1:c.1663+112_1663+113insTAGG ENSP00000503718.1:n.1663+112_1663+113insTAGG
ENST00000679076.1:c.1444+112_1444+113insTAGG
ENST00000679111.1:c.*581+112_*581+113insTAGG ENSP00000504257.1:n.*581+112_*581+113insTAGG
ENST00000679189.1:c.1474+112_1474+113insTAGG ENSP00000503356.1:n.1474+112_1474+113insTAGG
ENST00000341012.11:c.1663+112_1663+113insTAGG ENSP00000343034.7:n.1663+112_1663+113insTAGG
ENST00000372220.4:c.688+112_688+113insTAGG ENSP00000361294.4:n.688+112_688+113insTAGG
ENST00000372228.7:c.1891+112_1891+113insTAGG ENSP00000361302.3:n.1891+112_1891+113insTAGG
ENST00000402686.7:c.1825+112_1825+113insTAGG ENSP00000385797.3:n.1825+112_1825+113insTAGG
ENST00000404875.6:c.1474+112_1474+113insTAGG ENSP00000384531.2:n.1474+112_1474+113insTAGG
ENST00000423007.5:c.1825+112_1825+113insTAGG ENSP00000404119.1:n.1825+112_1825+113insTAGG
ENST00000485278.5:n.2375+112_2375+113insTAGG
ENST00000494883.1:n.368+112_368+113insTAGG
NM_001077365.1:c.1825+112_1825+113insTAGG NP_001070833.1:n.1825+112_1825+113insTAGG
NM_001077366.1:c.1663+112_1663+113insTAGG NP_001070834.1:n.1663+112_1663+113insTAGG
NM_001136113.1:c.1825+112_1825+113insTAGG NP_001129585.1:n.1825+112_1825+113insTAGG
NM_001136114.1:c.1474+112_1474+113insTAGG NP_001129586.1:n.1474+112_1474+113insTAGG
NM_007171.3:c.1891+112_1891+113insTAGG NP_009102.3:n.1891+112_1891+113insTAGG
XM_005272156.1:c.1891+112_1891+113insTAGG XP_005272213.1:n.1891+112_1891+113insTAGG
XM_005272158.1:c.1729+112_1729+113insTAGG XP_005272215.1:n.1729+112_1729+113insTAGG
XM_005272159.1:c.1540+112_1540+113insTAGG XP_005272216.1:n.1540+112_1540+113insTAGG
XM_005272162.1:c.694+112_694+113insTAGG XP_005272219.1:n.694+112_694+113insTAGG
XM_006716932.1:c.1540+112_1540+113insTAGG XP_006716995.1:n.1540+112_1540+113insTAGG
XM_011518140.1:c.1744+112_1744+113insTAGG XP_011516442.1:n.1744+112_1744+113insTAGG
XM_011518141.1:c.1678+112_1678+113insTAGG XP_011516443.1:n.1678+112_1678+113insTAGG
XM_011518142.1:c.1582+112_1582+113insTAGG XP_011516444.1:n.1582+112_1582+113insTAGG
XM_011518143.1:c.1576+112_1576+113insTAGG XP_011516445.1:n.1576+112_1576+113insTAGG
XM_011518145.1:c.1435+112_1435+113insTAGG XP_011516447.1:n.1435+112_1435+113insTAGG
XM_011518147.1:c.763+112_763+113insTAGG XP_011516449.1:n.763+112_763+113insTAGG
XR_929703.1:n.2067+112_2067+113insTAGG
NM_001353193.1:c.1891+112_1891+113insTAGG NP_001340122.1:n.1891+112_1891+113insTAGG
NM_001353194.1:c.1663+112_1663+113insTAGG NP_001340123.1:n.1663+112_1663+113insTAGG
NM_001353195.1:c.1474+112_1474+113insTAGG NP_001340124.1:n.1474+112_1474+113insTAGG
NM_001353196.1:c.1735+112_1735+113insTAGG NP_001340125.1:n.1735+112_1735+113insTAGG
NM_001353197.1:c.1729+112_1729+113insTAGG NP_001340126.1:n.1729+112_1729+113insTAGG
NM_001353198.1:c.1729+112_1729+113insTAGG NP_001340127.1:n.1729+112_1729+113insTAGG
NM_001353199.1:c.1540+112_1540+113insTAGG NP_001340128.1:n.1540+112_1540+113insTAGG
NM_001353200.1:c.1369+112_1369+113insTAGG NP_001340129.1:n.1369+112_1369+113insTAGG
NR_148391.1:n.1875+112_1875+113insTAGG
NR_148392.1:n.2093+112_2093+113insTAGG
NR_148393.1:n.2014+112_2014+113insTAGG
NR_148394.1:n.1768+112_1768+113insTAGG
NR_148395.1:n.2166+112_2166+113insTAGG
NR_148396.1:n.1800+112_1800+113insTAGG
NR_148397.1:n.1925+112_1925+113insTAGG
NR_148398.1:n.1880+112_1880+113insTAGG
NR_148399.1:n.2406+112_2406+113insTAGG
NR_148400.1:n.2005+112_2005+113insTAGG
XM_005272162.3:c.694+112_694+113insTAGG XP_005272219.1:n.694+112_694+113insTAGG
XM_006716932.2:c.1540+112_1540+113insTAGG XP_006716995.1:n.1540+112_1540+113insTAGG
XM_011518140.2:c.1744+112_1744+113insTAGG XP_011516442.1:n.1744+112_1744+113insTAGG
XM_011518141.2:c.1678+112_1678+113insTAGG XP_011516443.1:n.1678+112_1678+113insTAGG
XM_011518142.2:c.1582+112_1582+113insTAGG XP_011516444.1:n.1582+112_1582+113insTAGG
XM_011518143.2:c.1576+112_1576+113insTAGG XP_011516445.1:n.1576+112_1576+113insTAGG
XM_011518145.2:c.1435+112_1435+113insTAGG XP_011516447.1:n.1435+112_1435+113insTAGG
XM_017014205.2:c.694+112_694+113insTAGG XP_016869694.1:n.694+112_694+113insTAGG
XM_024447380.1:c.694+112_694+113insTAGG XP_024303148.1:n.694+112_694+113insTAGG
XM_024447381.1:c.1000+112_1000+113insTAGG XP_024303149.1:n.1000+112_1000+113insTAGG
XM_024447382.1:c.694+112_694+113insTAGG XP_024303150.1:n.694+112_694+113insTAGG
XR_001746160.2:n.1995+112_1995+113insTAGG
XR_001746162.2:n.2200+112_2200+113insTAGG
XR_001746164.1:n.1917+112_1917+113insTAGG
XR_001746166.2:n.2212+112_2212+113insTAGG
NM_001077365.2:c.1825+112_1825+113insTAGG MANE Select NP_001070833.1:n.1825+112_1825+113insTAGG
NM_001077366.2:c.1663+112_1663+113insTAGG NP_001070834.1:n.1663+112_1663+113insTAGG
NM_001136113.2:c.1825+112_1825+113insTAGG NP_001129585.1:n.1825+112_1825+113insTAGG
NM_001136114.2:c.1474+112_1474+113insTAGG NP_001129586.1:n.1474+112_1474+113insTAGG
NM_001353193.2:c.1891+112_1891+113insTAGG NP_001340122.2:n.1891+112_1891+113insTAGG
NM_001353194.2:c.1663+112_1663+113insTAGG NP_001340123.1:n.1663+112_1663+113insTAGG
NM_001353195.2:c.1474+112_1474+113insTAGG NP_001340124.1:n.1474+112_1474+113insTAGG
NM_001353196.2:c.1735+112_1735+113insTAGG NP_001340125.1:n.1735+112_1735+113insTAGG
NM_001353197.2:c.1729+112_1729+113insTAGG NP_001340126.2:n.1729+112_1729+113insTAGG
NM_001353198.2:c.1729+112_1729+113insTAGG NP_001340127.2:n.1729+112_1729+113insTAGG
NM_001353199.2:c.1540+112_1540+113insTAGG NP_001340128.2:n.1540+112_1540+113insTAGG
NM_001353200.2:c.1369+112_1369+113insTAGG NP_001340129.1:n.1369+112_1369+113insTAGG
NM_001374689.1:c.1813+112_1813+113insTAGG NP_001361618.1:n.1813+112_1813+113insTAGG
NM_001374690.1:c.1606+112_1606+113insTAGG NP_001361619.1:n.1606+112_1606+113insTAGG
NM_001374691.1:c.1474+112_1474+113insTAGG NP_001361620.1:n.1474+112_1474+113insTAGG
NM_001374692.1:c.1474+112_1474+113insTAGG NP_001361621.1:n.1474+112_1474+113insTAGG
NM_001374693.1:c.1474+112_1474+113insTAGG NP_001361622.1:n.1474+112_1474+113insTAGG
NM_001374695.1:c.1435+112_1435+113insTAGG NP_001361624.1:n.1435+112_1435+113insTAGG
NM_007171.4:c.1891+112_1891+113insTAGG NP_009102.4:n.1891+112_1891+113insTAGG
NR_148391.2:n.1859+112_1859+113insTAGG
NR_148392.2:n.2077+112_2077+113insTAGG
NR_148393.2:n.1998+112_1998+113insTAGG
NR_148394.2:n.1752+112_1752+113insTAGG
NR_148395.2:n.2150+112_2150+113insTAGG
NR_148396.2:n.1784+112_1784+113insTAGG
NR_148397.2:n.1909+112_1909+113insTAGG
NR_148398.2:n.1864+112_1864+113insTAGG
NR_148399.2:n.2390+112_2390+113insTAGG
NR_148400.2:n.1989+112_1989+113insTAGG