Canonical Allele Identifier: CA590946806
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 655295
ClinVar RCV Id: RCV000811436
dbSNP Id: rs1315540509
gnomAD v2: 9-134397437-C-CCTGGCTGCGCTGGGTG
gnomAD v4: 9-131522050-C-CCTGGCTGCGCTGGGTG
MyVariant Identifiers: chr9:g.134397437_134397438insCTGGCTGCGCTGGGTG (hg19) chr9:g.131522050_131522051insCTGGCTGCGCTGGGTG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522058_131522073dup , CM000671.2:g.131522058_131522073dup GRCh38
NC_000009.11:g.134397445_134397460dup , CM000671.1:g.134397445_134397460dup GRCh37
NC_000009.10:g.133387266_133387281dup NCBI36
NG_008896.1:g.24157_24172dup
NG_008896.2:g.24157_24172dup

Transcript Alleles

HGVS Amino-acid change
ENST00000341012.13:c.1675_1690dup ENSP00000343034.7:p.Gly564AlafsTer?
ENST00000404875.7:n.2377_2392dup
ENST00000423007.6:c.1894_1909dup ENSP00000404119.2:p.Gly637AlafsTer?
ENST00000677295.2:c.*2181_*2196dup ENSP00000504346.2:n.*2181_*2196dup
ENST00000678264.2:c.*2020_*2035dup ENSP00000503157.2:n.*2020_*2035dup
ENST00000682070.1:n.2291-144_2291-129dup
ENST00000682813.1:n.2241_2256dup
ENST00000683392.1:n.4573-144_4573-129dup
ENST00000683712.1:n.2242_2257dup
ENST00000683900.1:n.3737_3752dup
ENST00000684062.1:n.2503_2518dup
ENST00000684579.1:n.3683_3698dup
ENST00000684679.1:n.1064_1079dup
ENST00000341012.12:c.1675_1690dup ENSP00000343034.7:p.Gly564AlafsTer?
ENST00000372220.5:c.706_721dup ENSP00000361294.5:p.Gly241AlafsTer?
ENST00000372228.9:c.1903_1918dup ENSP00000361302.3:p.Gly640AlafsTer?
ENST00000402686.8:c.1837_1852dup MANE Select ENSP00000385797.4:p.Gly618AlafsTer?
ENST00000676640.1:c.1837_1852dup ENSP00000503281.1:p.Gly618AlafsTer?
ENST00000676803.1:c.898_913dup ENSP00000503093.1:p.Gly305AlafsTer?
ENST00000676835.1:c.*1052_*1067dup ENSP00000502911.1:n.*1052_*1067dup
ENST00000677029.1:c.1381_1396dup ENSP00000502936.1:p.Gly466AlafsTer?
ENST00000677099.1:c.*1547_*1562dup ENSP00000504553.1:n.*1547_*1562dup
ENST00000677216.1:c.1486_1501dup ENSP00000503772.1:p.Gly501AlafsTer?
ENST00000677221.1:n.862_877dup
ENST00000677295.1:c.*1203-144_*1203-129dup ENSP00000504346.1:n.*1203-144_*1203-129du...
ENST00000677444.1:c.1782_1797dup
ENST00000677586.1:n.1204_1219dup
ENST00000677626.1:c.1486_1501dup ENSP00000503552.1:p.Gly501AlafsTer?
ENST00000677853.1:c.*845_*860dup ENSP00000503488.1:n.*845_*860dup
ENST00000678202.1:n.996_1011dup
ENST00000678264.1:c.*1214_*1229dup ENSP00000503157.1:n.*1214_*1229dup
ENST00000678303.1:c.1747_1762dup ENSP00000503696.1:p.Gly588AlafsTer?
ENST00000678366.1:c.*2086_*2101dup ENSP00000504353.1:n.*2086_*2101dup
ENST00000678546.1:c.*1782_*1797dup ENSP00000503062.1:n.*1782_*1797dup
ENST00000678548.1:c.*1976_*1991dup ENSP00000503934.1:n.*1976_*1991dup
ENST00000678626.1:n.1673_1688dup
ENST00000678739.1:c.*2147-144_*2147-129dup ENSP00000503806.1:n.*2147-144_*2147-129du...
ENST00000678833.1:c.*1589_*1604dup ENSP00000503893.1:n.*1589_*1604dup
ENST00000679023.1:c.1675_1690dup ENSP00000503718.1:p.Gly564AlafsTer?
ENST00000679076.1:c.1456_1471dup
ENST00000679111.1:c.*593_*608dup ENSP00000504257.1:n.*593_*608dup
ENST00000679189.1:c.1486_1501dup ENSP00000503356.1:p.Gly501AlafsTer?
ENST00000341012.11:c.1675_1690dup ENSP00000343034.7:p.Gly564AlafsTer?
ENST00000372220.4:c.700_715dup ENSP00000361294.4:p.Gly239AlafsTer?
ENST00000372228.7:c.1903_1918dup ENSP00000361302.3:p.Gly640AlafsTer?
ENST00000402686.7:c.1837_1852dup ENSP00000385797.3:p.Gly618AlafsTer?
ENST00000404875.6:c.1486_1501dup ENSP00000384531.2:p.Gly501AlafsTer?
ENST00000423007.5:c.1837_1852dup ENSP00000404119.1:p.Gly618AlafsTer?
ENST00000485278.5:n.2387_2402dup
ENST00000494883.1:n.380_395dup
NM_001077365.1:c.1837_1852dup NP_001070833.1:p.Gly618AlafsTer?
NM_001077366.1:c.1675_1690dup NP_001070834.1:p.Gly564AlafsTer?
NM_001136113.1:c.1837_1852dup NP_001129585.1:p.Gly618AlafsTer?
NM_001136114.1:c.1486_1501dup NP_001129586.1:p.Gly501AlafsTer?
NM_007171.3:c.1903_1918dup NP_009102.3:p.Gly640AlafsTer?
XM_005272156.1:c.1903_1918dup XP_005272213.1:p.Gly640AlafsTer?
XM_005272158.1:c.1741_1756dup XP_005272215.1:p.Gly586AlafsTer?
XM_005272159.1:c.1552_1567dup XP_005272216.1:p.Gly523AlafsTer?
XM_005272162.1:c.706_721dup XP_005272219.1:p.Gly241AlafsTer?
XM_006716932.1:c.1552_1567dup XP_006716995.1:p.Gly523AlafsTer?
XM_011518140.1:c.1756_1771dup XP_011516442.1:p.Gly591AlafsTer?
XM_011518141.1:c.1690_1705dup XP_011516443.1:p.Gly569AlafsTer?
XM_011518142.1:c.1594_1609dup XP_011516444.1:p.Gly537AlafsTer?
XM_011518143.1:c.1588_1603dup XP_011516445.1:p.Gly535AlafsTer?
XM_011518145.1:c.1447_1462dup XP_011516447.1:p.Gly488AlafsTer?
XM_011518147.1:c.775_790dup XP_011516449.1:p.Gly264AlafsTer?
XR_929703.1:n.2079_2094dup
NM_001353193.1:c.1903_1918dup NP_001340122.1:p.Gly640AlafsTer?
NM_001353194.1:c.1675_1690dup NP_001340123.1:p.Gly564AlafsTer?
NM_001353195.1:c.1486_1501dup NP_001340124.1:p.Gly501AlafsTer?
NM_001353196.1:c.1747_1762dup NP_001340125.1:p.Gly588AlafsTer?
NM_001353197.1:c.1741_1756dup NP_001340126.1:p.Gly586AlafsTer?
NM_001353198.1:c.1741_1756dup NP_001340127.1:p.Gly586AlafsTer?
NM_001353199.1:c.1552_1567dup NP_001340128.1:p.Gly523AlafsTer?
NM_001353200.1:c.1381_1396dup NP_001340129.1:p.Gly466AlafsTer?
NR_148391.1:n.1887_1902dup
NR_148392.1:n.2105_2120dup
NR_148393.1:n.2026_2041dup
NR_148394.1:n.1780_1795dup
NR_148395.1:n.2178_2193dup
NR_148396.1:n.1812_1827dup
NR_148397.1:n.1937_1952dup
NR_148398.1:n.1892_1907dup
NR_148399.1:n.2418_2433dup
NR_148400.1:n.2017_2032dup
XM_005272162.3:c.706_721dup XP_005272219.1:p.Gly241AlafsTer?
XM_006716932.2:c.1552_1567dup XP_006716995.1:p.Gly523AlafsTer?
XM_011518140.2:c.1756_1771dup XP_011516442.1:p.Gly591AlafsTer?
XM_011518141.2:c.1690_1705dup XP_011516443.1:p.Gly569AlafsTer?
XM_011518142.2:c.1594_1609dup XP_011516444.1:p.Gly537AlafsTer?
XM_011518143.2:c.1588_1603dup XP_011516445.1:p.Gly535AlafsTer?
XM_011518145.2:c.1447_1462dup XP_011516447.1:p.Gly488AlafsTer?
XM_017014205.2:c.706_721dup XP_016869694.1:p.Gly241AlafsTer?
XM_024447380.1:c.706_721dup XP_024303148.1:p.Gly241AlafsTer?
XM_024447381.1:c.1012_1027dup XP_024303149.1:p.Gly343AlafsTer?
XM_024447382.1:c.706_721dup XP_024303150.1:p.Gly241AlafsTer?
XR_001746160.2:n.2007_2022dup
XR_001746162.2:n.2212_2227dup
XR_001746164.1:n.1929_1944dup
XR_001746166.2:n.2224_2239dup
NM_001077365.2:c.1837_1852dup MANE Select NP_001070833.1:p.Gly618AlafsTer?
NM_001077366.2:c.1675_1690dup NP_001070834.1:p.Gly564AlafsTer?
NM_001136113.2:c.1837_1852dup NP_001129585.1:p.Gly618AlafsTer?
NM_001136114.2:c.1486_1501dup NP_001129586.1:p.Gly501AlafsTer?
NM_001353193.2:c.1903_1918dup NP_001340122.2:p.Gly640AlafsTer?
NM_001353194.2:c.1675_1690dup NP_001340123.1:p.Gly564AlafsTer?
NM_001353195.2:c.1486_1501dup NP_001340124.1:p.Gly501AlafsTer?
NM_001353196.2:c.1747_1762dup NP_001340125.1:p.Gly588AlafsTer?
NM_001353197.2:c.1741_1756dup NP_001340126.2:p.Gly586AlafsTer?
NM_001353198.2:c.1741_1756dup NP_001340127.2:p.Gly586AlafsTer?
NM_001353199.2:c.1552_1567dup NP_001340128.2:p.Gly523AlafsTer?
NM_001353200.2:c.1381_1396dup NP_001340129.1:p.Gly466AlafsTer?
NM_001374689.1:c.1825_1840dup NP_001361618.1:p.Gly614AlafsTer?
NM_001374690.1:c.1618_1633dup NP_001361619.1:p.Gly545AlafsTer?
NM_001374691.1:c.1486_1501dup NP_001361620.1:p.Gly501AlafsTer?
NM_001374692.1:c.1486_1501dup NP_001361621.1:p.Gly501AlafsTer?
NM_001374693.1:c.1486_1501dup NP_001361622.1:p.Gly501AlafsTer?
NM_001374695.1:c.1447_1462dup NP_001361624.1:p.Gly488AlafsTer?
NM_007171.4:c.1903_1918dup NP_009102.4:p.Gly640AlafsTer?
NR_148391.2:n.1871_1886dup
NR_148392.2:n.2089_2104dup
NR_148393.2:n.2010_2025dup
NR_148394.2:n.1764_1779dup
NR_148395.2:n.2162_2177dup
NR_148396.2:n.1796_1811dup
NR_148397.2:n.1921_1936dup
NR_148398.2:n.1876_1891dup
NR_148399.2:n.2402_2417dup
NR_148400.2:n.2001_2016dup
Search 100 bp 5'
Search 100 bp 3'