Canonical Allele Identifier: CA2580079876
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2004737
ClinVar RCV Id: RCV002816313
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521475_131521488del , CM000671.2:g.131521475_131521488del GRCh38
NC_000009.11:g.134396862_134396875del , CM000671.1:g.134396862_134396875del GRCh37
NC_000009.10:g.133386683_133386696del NCBI36
NG_008896.1:g.23574_23587del
NG_008896.2:g.23574_23587del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1663+3_1663+16del ENSP00000343034.7:n.1663+3_1663+16del
ENST00000404875.7:n.2365+3_2365+16del
ENST00000423007.6:c.1882+3_1882+16del ENSP00000404119.2:n.1882+3_1882+16del
ENST00000677295.2:c.*2169+3_*2169+16del ENSP00000504346.2:n.*2169+3_*2169+16del
ENST00000678264.2:c.*2008+3_*2008+16del ENSP00000503157.2:n.*2008+3_*2008+16del
ENST00000682070.1:n.2290+3_2290+16del
ENST00000682813.1:n.2229+3_2229+16del
ENST00000683392.1:n.4572+3_4572+16del
ENST00000683712.1:n.2230+3_2230+16del
ENST00000683900.1:n.3725+3_3725+16del
ENST00000684062.1:n.2491+3_2491+16del
ENST00000684579.1:n.3671+3_3671+16del
ENST00000684679.1:n.1052+3_1052+16del
ENST00000341012.12:c.1663+3_1663+16del ENSP00000343034.7:n.1663+3_1663+16del
ENST00000372220.5:c.694+3_694+16del ENSP00000361294.5:n.694+3_694+16del
ENST00000372228.9:c.1891+3_1891+16del ENSP00000361302.3:n.1891+3_1891+16del
ENST00000402686.8:c.1825+3_1825+16del MANE Select ENSP00000385797.4:n.1825+3_1825+16del
ENST00000676640.1:c.1825+3_1825+16del ENSP00000503281.1:n.1825+3_1825+16del
ENST00000676803.1:c.886+3_886+16del ENSP00000503093.1:n.886+3_886+16del
ENST00000676835.1:c.*1040+3_*1040+16del ENSP00000502911.1:n.*1040+3_*1040+16del
ENST00000677029.1:c.1369+3_1369+16del ENSP00000502936.1:n.1369+3_1369+16del
ENST00000677099.1:c.*1535+3_*1535+16del ENSP00000504553.1:n.*1535+3_*1535+16del
ENST00000677216.1:c.1474+3_1474+16del ENSP00000503772.1:n.1474+3_1474+16del
ENST00000677221.1:n.850+3_850+16del
ENST00000677295.1:c.*1202+3_*1202+16del ENSP00000504346.1:n.*1202+3_*1202+16del
ENST00000677444.1:c.1770+3_1770+16del
ENST00000677586.1:n.1192+3_1192+16del
ENST00000677626.1:c.1474+3_1474+16del ENSP00000503552.1:n.1474+3_1474+16del
ENST00000677853.1:c.*833+3_*833+16del ENSP00000503488.1:n.*833+3_*833+16del
ENST00000678202.1:n.984+3_984+16del
ENST00000678264.1:c.*1202+3_*1202+16del ENSP00000503157.1:n.*1202+3_*1202+16del
ENST00000678303.1:c.1735+3_1735+16del ENSP00000503696.1:n.1735+3_1735+16del
ENST00000678366.1:c.*2074+3_*2074+16del ENSP00000504353.1:n.*2074+3_*2074+16del
ENST00000678546.1:c.*1770+3_*1770+16del ENSP00000503062.1:n.*1770+3_*1770+16del
ENST00000678548.1:c.*1897+3_*1897+16del ENSP00000503934.1:n.*1897+3_*1897+16del
ENST00000678626.1:n.1661+3_1661+16del
ENST00000678739.1:c.*2146+3_*2146+16del ENSP00000503806.1:n.*2146+3_*2146+16del
ENST00000678833.1:c.*1577+3_*1577+16del ENSP00000503893.1:n.*1577+3_*1577+16del
ENST00000679023.1:c.1663+3_1663+16del ENSP00000503718.1:n.1663+3_1663+16del
ENST00000679076.1:c.1444+3_1444+16del
ENST00000679111.1:c.*581+3_*581+16del ENSP00000504257.1:n.*581+3_*581+16del
ENST00000679189.1:c.1474+3_1474+16del ENSP00000503356.1:n.1474+3_1474+16del
ENST00000341012.11:c.1663+3_1663+16del ENSP00000343034.7:n.1663+3_1663+16del
ENST00000372220.4:c.688+3_688+16del ENSP00000361294.4:n.688+3_688+16del
ENST00000372228.7:c.1891+3_1891+16del ENSP00000361302.3:n.1891+3_1891+16del
ENST00000402686.7:c.1825+3_1825+16del ENSP00000385797.3:n.1825+3_1825+16del
ENST00000404875.6:c.1474+3_1474+16del ENSP00000384531.2:n.1474+3_1474+16del
ENST00000423007.5:c.1825+3_1825+16del ENSP00000404119.1:n.1825+3_1825+16del
ENST00000485278.5:n.2375+3_2375+16del
ENST00000494883.1:n.368+3_368+16del
NM_001077365.1:c.1825+3_1825+16del NP_001070833.1:n.1825+3_1825+16del
NM_001077366.1:c.1663+3_1663+16del NP_001070834.1:n.1663+3_1663+16del
NM_001136113.1:c.1825+3_1825+16del NP_001129585.1:n.1825+3_1825+16del
NM_001136114.1:c.1474+3_1474+16del NP_001129586.1:n.1474+3_1474+16del
NM_007171.3:c.1891+3_1891+16del NP_009102.3:n.1891+3_1891+16del
XM_005272156.1:c.1891+3_1891+16del XP_005272213.1:n.1891+3_1891+16del
XM_005272158.1:c.1729+3_1729+16del XP_005272215.1:n.1729+3_1729+16del
XM_005272159.1:c.1540+3_1540+16del XP_005272216.1:n.1540+3_1540+16del
XM_005272162.1:c.694+3_694+16del XP_005272219.1:n.694+3_694+16del
XM_006716932.1:c.1540+3_1540+16del XP_006716995.1:n.1540+3_1540+16del
XM_011518140.1:c.1744+3_1744+16del XP_011516442.1:n.1744+3_1744+16del
XM_011518141.1:c.1678+3_1678+16del XP_011516443.1:n.1678+3_1678+16del
XM_011518142.1:c.1582+3_1582+16del XP_011516444.1:n.1582+3_1582+16del
XM_011518143.1:c.1576+3_1576+16del XP_011516445.1:n.1576+3_1576+16del
XM_011518145.1:c.1435+3_1435+16del XP_011516447.1:n.1435+3_1435+16del
XM_011518147.1:c.763+3_763+16del XP_011516449.1:n.763+3_763+16del
XR_929703.1:n.2067+3_2067+16del
NM_001353193.1:c.1891+3_1891+16del NP_001340122.1:n.1891+3_1891+16del
NM_001353194.1:c.1663+3_1663+16del NP_001340123.1:n.1663+3_1663+16del
NM_001353195.1:c.1474+3_1474+16del NP_001340124.1:n.1474+3_1474+16del
NM_001353196.1:c.1735+3_1735+16del NP_001340125.1:n.1735+3_1735+16del
NM_001353197.1:c.1729+3_1729+16del NP_001340126.1:n.1729+3_1729+16del
NM_001353198.1:c.1729+3_1729+16del NP_001340127.1:n.1729+3_1729+16del
NM_001353199.1:c.1540+3_1540+16del NP_001340128.1:n.1540+3_1540+16del
NM_001353200.1:c.1369+3_1369+16del NP_001340129.1:n.1369+3_1369+16del
NR_148391.1:n.1875+3_1875+16del
NR_148392.1:n.2093+3_2093+16del
NR_148393.1:n.2014+3_2014+16del
NR_148394.1:n.1768+3_1768+16del
NR_148395.1:n.2166+3_2166+16del
NR_148396.1:n.1800+3_1800+16del
NR_148397.1:n.1925+3_1925+16del
NR_148398.1:n.1880+3_1880+16del
NR_148399.1:n.2406+3_2406+16del
NR_148400.1:n.2005+3_2005+16del
XM_005272162.3:c.694+3_694+16del XP_005272219.1:n.694+3_694+16del
XM_006716932.2:c.1540+3_1540+16del XP_006716995.1:n.1540+3_1540+16del
XM_011518140.2:c.1744+3_1744+16del XP_011516442.1:n.1744+3_1744+16del
XM_011518141.2:c.1678+3_1678+16del XP_011516443.1:n.1678+3_1678+16del
XM_011518142.2:c.1582+3_1582+16del XP_011516444.1:n.1582+3_1582+16del
XM_011518143.2:c.1576+3_1576+16del XP_011516445.1:n.1576+3_1576+16del
XM_011518145.2:c.1435+3_1435+16del XP_011516447.1:n.1435+3_1435+16del
XM_017014205.2:c.694+3_694+16del XP_016869694.1:n.694+3_694+16del
XM_024447380.1:c.694+3_694+16del XP_024303148.1:n.694+3_694+16del
XM_024447381.1:c.1000+3_1000+16del XP_024303149.1:n.1000+3_1000+16del
XM_024447382.1:c.694+3_694+16del XP_024303150.1:n.694+3_694+16del
XR_001746160.2:n.1995+3_1995+16del
XR_001746162.2:n.2200+3_2200+16del
XR_001746164.1:n.1917+3_1917+16del
XR_001746166.2:n.2212+3_2212+16del
NM_001077365.2:c.1825+3_1825+16del MANE Select NP_001070833.1:n.1825+3_1825+16del
NM_001077366.2:c.1663+3_1663+16del NP_001070834.1:n.1663+3_1663+16del
NM_001136113.2:c.1825+3_1825+16del NP_001129585.1:n.1825+3_1825+16del
NM_001136114.2:c.1474+3_1474+16del NP_001129586.1:n.1474+3_1474+16del
NM_001353193.2:c.1891+3_1891+16del NP_001340122.2:n.1891+3_1891+16del
NM_001353194.2:c.1663+3_1663+16del NP_001340123.1:n.1663+3_1663+16del
NM_001353195.2:c.1474+3_1474+16del NP_001340124.1:n.1474+3_1474+16del
NM_001353196.2:c.1735+3_1735+16del NP_001340125.1:n.1735+3_1735+16del
NM_001353197.2:c.1729+3_1729+16del NP_001340126.2:n.1729+3_1729+16del
NM_001353198.2:c.1729+3_1729+16del NP_001340127.2:n.1729+3_1729+16del
NM_001353199.2:c.1540+3_1540+16del NP_001340128.2:n.1540+3_1540+16del
NM_001353200.2:c.1369+3_1369+16del NP_001340129.1:n.1369+3_1369+16del
NM_001374689.1:c.1813+3_1813+16del NP_001361618.1:n.1813+3_1813+16del
NM_001374690.1:c.1606+3_1606+16del NP_001361619.1:n.1606+3_1606+16del
NM_001374691.1:c.1474+3_1474+16del NP_001361620.1:n.1474+3_1474+16del
NM_001374692.1:c.1474+3_1474+16del NP_001361621.1:n.1474+3_1474+16del
NM_001374693.1:c.1474+3_1474+16del NP_001361622.1:n.1474+3_1474+16del
NM_001374695.1:c.1435+3_1435+16del NP_001361624.1:n.1435+3_1435+16del
NM_007171.4:c.1891+3_1891+16del NP_009102.4:n.1891+3_1891+16del
NR_148391.2:n.1859+3_1859+16del
NR_148392.2:n.2077+3_2077+16del
NR_148393.2:n.1998+3_1998+16del
NR_148394.2:n.1752+3_1752+16del
NR_148395.2:n.2150+3_2150+16del
NR_148396.2:n.1784+3_1784+16del
NR_148397.2:n.1909+3_1909+16del
NR_148398.2:n.1864+3_1864+16del
NR_148399.2:n.2390+3_2390+16del
NR_148400.2:n.1989+3_1989+16del
Search 100 bp 5'
Search 100 bp 3'