Canonical Allele Identifier: CA5293878
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs765065054
ExAC: 9:134397527 TC / T
gnomAD v2: 9-134397527-TC-T
gnomAD v4: 9-131522140-TC-T
MyVariant Identifiers: chr9:g.134397528del (hg19) chr9:g.131522142del (hg38) chr9:g.131522141del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522142del , CM000671.2:g.131522142del GRCh38
NC_000009.11:g.134397529del , CM000671.1:g.134397529del GRCh37
NC_000009.10:g.133387350del NCBI36
NG_008896.1:g.24241del
NG_008896.2:g.24241del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1759del ENSP00000343034.7:p.Leu587SerfsTer?
ENST00000404875.7:n.2461del
ENST00000423007.6:c.1978del ENSP00000404119.2:p.Leu660SerfsTer?
ENST00000677295.2:c.*2265del ENSP00000504346.2:n.*2265del
ENST00000678264.2:c.*2104del ENSP00000503157.2:n.*2104del
ENST00000682070.1:n.2291-60del
ENST00000682813.1:n.2325del
ENST00000683392.1:n.4573-60del
ENST00000683712.1:n.2326del
ENST00000683900.1:n.3821del
ENST00000684062.1:n.2587del
ENST00000684579.1:n.3767del
ENST00000684679.1:n.1148del
ENST00000341012.12:c.1759del ENSP00000343034.7:p.Leu587SerfsTer?
ENST00000372220.5:c.790del ENSP00000361294.5:p.Leu264SerfsTer?
ENST00000372228.9:c.1987del ENSP00000361302.3:p.Leu663SerfsTer?
ENST00000402686.8:c.1921del MANE Select ENSP00000385797.4:p.Leu641SerfsTer?
ENST00000676640.1:c.1921del ENSP00000503281.1:p.Leu641SerfsTer?
ENST00000676803.1:c.982del ENSP00000503093.1:p.Leu328SerfsTer?
ENST00000676835.1:c.*1136del ENSP00000502911.1:n.*1136del
ENST00000677029.1:c.1465del ENSP00000502936.1:p.Leu489SerfsTer?
ENST00000677099.1:c.*1631del ENSP00000504553.1:n.*1631del
ENST00000677216.1:c.1570del ENSP00000503772.1:p.Leu524SerfsTer?
ENST00000677221.1:n.946del
ENST00000677295.1:c.*1203-60del ENSP00000504346.1:n.*1203-60del
ENST00000677444.1:c.1866del
ENST00000677586.1:n.1288del
ENST00000677626.1:c.1570del ENSP00000503552.1:p.Leu524SerfsTer?
ENST00000677853.1:c.*929del ENSP00000503488.1:n.*929del
ENST00000678202.1:n.1080del
ENST00000678264.1:c.*1298del ENSP00000503157.1:n.*1298del
ENST00000678303.1:c.1831del ENSP00000503696.1:p.Leu611SerfsTer?
ENST00000678366.1:c.*2170del ENSP00000504353.1:n.*2170del
ENST00000678546.1:c.*1866del ENSP00000503062.1:n.*1866del
ENST00000678548.1:c.*2060del ENSP00000503934.1:n.*2060del
ENST00000678626.1:n.1757del
ENST00000678739.1:c.*2147-60del ENSP00000503806.1:n.*2147-60del
ENST00000678833.1:c.*1673del ENSP00000503893.1:n.*1673del
ENST00000679023.1:c.1759del ENSP00000503718.1:p.Leu587SerfsTer?
ENST00000679076.1:c.1540del
ENST00000679111.1:c.*677del ENSP00000504257.1:n.*677del
ENST00000679189.1:c.1570del ENSP00000503356.1:p.Leu524SerfsTer?
ENST00000341012.11:c.1759del ENSP00000343034.7:p.Leu587SerfsTer?
ENST00000372220.4:c.784del ENSP00000361294.4:p.Leu262SerfsTer?
ENST00000372228.7:c.1987del ENSP00000361302.3:p.Leu663SerfsTer?
ENST00000402686.7:c.1921del ENSP00000385797.3:p.Leu641SerfsTer?
ENST00000404875.6:c.1570del ENSP00000384531.2:p.Leu524SerfsTer?
ENST00000423007.5:c.1921del ENSP00000404119.1:p.Leu641SerfsTer?
ENST00000485278.5:n.2471del
ENST00000494883.1:n.464del
NM_001077365.1:c.1921del NP_001070833.1:p.Leu641SerfsTer?
NM_001077366.1:c.1759del NP_001070834.1:p.Leu587SerfsTer?
NM_001136113.1:c.1921del NP_001129585.1:p.Leu641SerfsTer?
NM_001136114.1:c.1570del NP_001129586.1:p.Leu524SerfsTer?
NM_007171.3:c.1987del NP_009102.3:p.Leu663SerfsTer?
XM_005272156.1:c.1987del XP_005272213.1:p.Leu663SerfsTer?
XM_005272158.1:c.1825del XP_005272215.1:p.Leu609SerfsTer?
XM_005272159.1:c.1636del XP_005272216.1:p.Leu546SerfsTer?
XM_005272162.1:c.790del XP_005272219.1:p.Leu264SerfsTer?
XM_006716932.1:c.1636del XP_006716995.1:p.Leu546SerfsTer?
XM_011518140.1:c.1840del XP_011516442.1:p.Leu614SerfsTer?
XM_011518141.1:c.1774del XP_011516443.1:p.Leu592SerfsTer?
XM_011518142.1:c.1678del XP_011516444.1:p.Leu560SerfsTer?
XM_011518143.1:c.1672del XP_011516445.1:p.Leu558SerfsTer?
XM_011518145.1:c.1531del XP_011516447.1:p.Leu511SerfsTer?
XM_011518147.1:c.859del XP_011516449.1:p.Leu287SerfsTer?
XR_929703.1:n.2163del
NM_001353193.1:c.1987del NP_001340122.1:p.Leu663SerfsTer?
NM_001353194.1:c.1759del NP_001340123.1:p.Leu587SerfsTer?
NM_001353195.1:c.1570del NP_001340124.1:p.Leu524SerfsTer?
NM_001353196.1:c.1831del NP_001340125.1:p.Leu611SerfsTer?
NM_001353197.1:c.1825del NP_001340126.1:p.Leu609SerfsTer?
NM_001353198.1:c.1825del NP_001340127.1:p.Leu609SerfsTer?
NM_001353199.1:c.1636del NP_001340128.1:p.Leu546SerfsTer?
NM_001353200.1:c.1465del NP_001340129.1:p.Leu489SerfsTer?
NR_148391.1:n.1971del
NR_148392.1:n.2189del
NR_148393.1:n.2110del
NR_148394.1:n.1864del
NR_148395.1:n.2262del
NR_148396.1:n.1896del
NR_148397.1:n.2021del
NR_148398.1:n.1976del
NR_148399.1:n.2502del
NR_148400.1:n.2101del
XM_005272162.3:c.790del XP_005272219.1:p.Leu264SerfsTer?
XM_006716932.2:c.1636del XP_006716995.1:p.Leu546SerfsTer?
XM_011518140.2:c.1840del XP_011516442.1:p.Leu614SerfsTer?
XM_011518141.2:c.1774del XP_011516443.1:p.Leu592SerfsTer?
XM_011518142.2:c.1678del XP_011516444.1:p.Leu560SerfsTer?
XM_011518143.2:c.1672del XP_011516445.1:p.Leu558SerfsTer?
XM_011518145.2:c.1531del XP_011516447.1:p.Leu511SerfsTer?
XM_017014205.2:c.790del XP_016869694.1:p.Leu264SerfsTer?
XM_024447380.1:c.790del XP_024303148.1:p.Leu264SerfsTer?
XM_024447381.1:c.1096del XP_024303149.1:p.Leu366SerfsTer?
XM_024447382.1:c.790del XP_024303150.1:p.Leu264SerfsTer?
XR_001746160.2:n.2091del
XR_001746162.2:n.2296del
XR_001746164.1:n.2013del
XR_001746166.2:n.2308del
NM_001077365.2:c.1921del MANE Select NP_001070833.1:p.Leu641SerfsTer?
NM_001077366.2:c.1759del NP_001070834.1:p.Leu587SerfsTer?
NM_001136113.2:c.1921del NP_001129585.1:p.Leu641SerfsTer?
NM_001136114.2:c.1570del NP_001129586.1:p.Leu524SerfsTer?
NM_001353193.2:c.1987del NP_001340122.2:p.Leu663SerfsTer?
NM_001353194.2:c.1759del NP_001340123.1:p.Leu587SerfsTer?
NM_001353195.2:c.1570del NP_001340124.1:p.Leu524SerfsTer?
NM_001353196.2:c.1831del NP_001340125.1:p.Leu611SerfsTer?
NM_001353197.2:c.1825del NP_001340126.2:p.Leu609SerfsTer?
NM_001353198.2:c.1825del NP_001340127.2:p.Leu609SerfsTer?
NM_001353199.2:c.1636del NP_001340128.2:p.Leu546SerfsTer?
NM_001353200.2:c.1465del NP_001340129.1:p.Leu489SerfsTer?
NM_001374689.1:c.1909del NP_001361618.1:p.Leu637SerfsTer?
NM_001374690.1:c.1702del NP_001361619.1:p.Leu568SerfsTer?
NM_001374691.1:c.1570del NP_001361620.1:p.Leu524SerfsTer?
NM_001374692.1:c.1570del NP_001361621.1:p.Leu524SerfsTer?
NM_001374693.1:c.1570del NP_001361622.1:p.Leu524SerfsTer?
NM_001374695.1:c.1531del NP_001361624.1:p.Leu511SerfsTer?
NM_007171.4:c.1987del NP_009102.4:p.Leu663SerfsTer?
NR_148391.2:n.1955del
NR_148392.2:n.2173del
NR_148393.2:n.2094del
NR_148394.2:n.1848del
NR_148395.2:n.2246del
NR_148396.2:n.1880del
NR_148397.2:n.2005del
NR_148398.2:n.1960del
NR_148399.2:n.2486del
NR_148400.2:n.2085del
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