Canonical Allele Identifier: CA1881752961
Gene: POMT1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131519007_131519019delinsCTCAATATTTGAT , CM000671.2:g.131519007_131519019delinsCTCAATATTTGAT GRCh38
NC_000009.11:g.134394394_134394406delinsCTCAATATTTGAT , CM000671.1:g.134394394_134394406delinsCTCAATATTTGAT GRCh37
NC_000009.10:g.133384215_133384227delinsCTCAATATTTGAT NCBI36
NG_008896.1:g.21106_21118delinsCTCAATATTTGAT
NG_008896.2:g.21106_21118delinsCTCAATATTTGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1324+50_1324+62delinsCTCAATATTTGAT ENSP00000343034.7:n.1324+50_1324+62delinsCTCAATATTTGAT
ENST00000404875.7:n.2026+50_2026+62delinsCTCAATATTTGAT
ENST00000423007.6:c.1543+50_1543+62delinsCTCAATATTTGAT ENSP00000404119.2:n.1543+50_1543+62delinsCTCAATATTTGAT
ENST00000677295.2:c.*1830+50_*1830+62delinsCTCAATATTTGAT ENSP00000504346.2:n.*1830+50_*1830+62delinsCTCAATATTTGAT
ENST00000678264.2:c.*1669+50_*1669+62delinsCTCAATATTTGAT ENSP00000503157.2:n.*1669+50_*1669+62delinsCTCAATATTTGAT
ENST00000682070.1:n.1951+50_1951+62delinsCTCAATATTTGAT
ENST00000682813.1:n.1890+50_1890+62delinsCTCAATATTTGAT
ENST00000683392.1:n.4233+50_4233+62delinsCTCAATATTTGAT
ENST00000683712.1:n.1891+50_1891+62delinsCTCAATATTTGAT
ENST00000683900.1:n.3386+50_3386+62delinsCTCAATATTTGAT
ENST00000684062.1:n.2152+50_2152+62delinsCTCAATATTTGAT
ENST00000684579.1:n.3332+50_3332+62delinsCTCAATATTTGAT
ENST00000684679.1:n.713+50_713+62delinsCTCAATATTTGAT
ENST00000341012.12:c.1324+50_1324+62delinsCTCAATATTTGAT ENSP00000343034.7:n.1324+50_1324+62delinsCTCAATATTTGAT
ENST00000372220.5:c.355+50_355+62delinsCTCAATATTTGAT ENSP00000361294.5:n.355+50_355+62delinsCTCAATATTTGAT
ENST00000372228.9:c.1552+50_1552+62delinsCTCAATATTTGAT ENSP00000361302.3:n.1552+50_1552+62delinsCTCAATATTTGAT
ENST00000402686.8:c.1486+50_1486+62delinsCTCAATATTTGAT MANE Select ENSP00000385797.4:n.1486+50_1486+62delinsCTCAATATTTGAT
ENST00000676640.1:c.1486+50_1486+62delinsCTCAATATTTGAT ENSP00000503281.1:n.1486+50_1486+62delinsCTCAATATTTGAT
ENST00000676803.1:c.661+50_661+62delinsCTCAATATTTGAT ENSP00000503093.1:n.661+50_661+62delinsCTCAATATTTGAT
ENST00000676835.1:c.*701+50_*701+62delinsCTCAATATTTGAT ENSP00000502911.1:n.*701+50_*701+62delinsCTCAATATTTGAT
ENST00000677029.1:c.1030+50_1030+62delinsCTCAATATTTGAT ENSP00000502936.1:n.1030+50_1030+62delinsCTCAATATTTGAT
ENST00000677099.1:c.*1196+50_*1196+62delinsCTCAATATTTGAT ENSP00000504553.1:n.*1196+50_*1196+62delinsCTCAATATTTGAT
ENST00000677216.1:c.1135+50_1135+62delinsCTCAATATTTGAT ENSP00000503772.1:n.1135+50_1135+62delinsCTCAATATTTGAT
ENST00000677221.1:n.511+50_511+62delinsCTCAATATTTGAT
ENST00000677295.1:c.*863+50_*863+62delinsCTCAATATTTGAT ENSP00000504346.1:n.*863+50_*863+62delinsCTCAATATTTGAT
ENST00000677444.1:c.1431+50_1431+62delinsCTCAATATTTGAT
ENST00000677586.1:n.967+50_967+62delinsCTCAATATTTGAT
ENST00000677626.1:c.1135+50_1135+62delinsCTCAATATTTGAT ENSP00000503552.1:n.1135+50_1135+62delinsCTCAATATTTGAT
ENST00000677677.1:n.1446+50_1446+62delinsCTCAATATTTGAT
ENST00000677853.1:c.*494+50_*494+62delinsCTCAATATTTGAT ENSP00000503488.1:n.*494+50_*494+62delinsCTCAATATTTGAT
ENST00000678202.1:n.645+50_645+62delinsCTCAATATTTGAT
ENST00000678264.1:c.*863+50_*863+62delinsCTCAATATTTGAT ENSP00000503157.1:n.*863+50_*863+62delinsCTCAATATTTGAT
ENST00000678303.1:c.1396+50_1396+62delinsCTCAATATTTGAT ENSP00000503696.1:n.1396+50_1396+62delinsCTCAATATTTGAT
ENST00000678366.1:c.*1735+50_*1735+62delinsCTCAATATTTGAT ENSP00000504353.1:n.*1735+50_*1735+62delinsCTCAATATTTGAT
ENST00000678546.1:c.*1431+50_*1431+62delinsCTCAATATTTGAT ENSP00000503062.1:n.*1431+50_*1431+62delinsCTCAATATTTGAT
ENST00000678548.1:c.*1558+50_*1558+62delinsCTCAATATTTGAT ENSP00000503934.1:n.*1558+50_*1558+62delinsCTCAATATTTGAT
ENST00000678626.1:n.1322+50_1322+62delinsCTCAATATTTGAT
ENST00000678733.1:c.567+50_567+62delinsCTCAATATTTGAT
ENST00000678739.1:c.*1812+50_*1812+62delinsCTCAATATTTGAT ENSP00000503806.1:n.*1812+50_*1812+62delinsCTCAATATTTGAT
ENST00000678833.1:c.*933+50_*933+62delinsCTCAATATTTGAT ENSP00000503893.1:n.*933+50_*933+62delinsCTCAATATTTGAT
ENST00000679023.1:c.1324+50_1324+62delinsCTCAATATTTGAT ENSP00000503718.1:n.1324+50_1324+62delinsCTCAATATTTGAT
ENST00000679076.1:c.1105+50_1105+62delinsCTCAATATTTGAT
ENST00000679111.1:c.*242+50_*242+62delinsCTCAATATTTGAT ENSP00000504257.1:n.*242+50_*242+62delinsCTCAATATTTGAT
ENST00000679189.1:c.1135+50_1135+62delinsCTCAATATTTGAT ENSP00000503356.1:n.1135+50_1135+62delinsCTCAATATTTGAT
ENST00000341012.11:c.1324+50_1324+62delinsCTCAATATTTGAT ENSP00000343034.7:n.1324+50_1324+62delinsCTCAATATTTGAT
ENST00000372220.4:c.349+50_349+62delinsCTCAATATTTGAT ENSP00000361294.4:n.349+50_349+62delinsCTCAATATTTGAT
ENST00000372228.7:c.1552+50_1552+62delinsCTCAATATTTGAT ENSP00000361302.3:n.1552+50_1552+62delinsCTCAATATTTGAT
ENST00000402686.7:c.1486+50_1486+62delinsCTCAATATTTGAT ENSP00000385797.3:n.1486+50_1486+62delinsCTCAATATTTGAT
ENST00000404875.6:c.1135+50_1135+62delinsCTCAATATTTGAT ENSP00000384531.2:n.1135+50_1135+62delinsCTCAATATTTGAT
ENST00000423007.5:c.1486+50_1486+62delinsCTCAATATTTGAT ENSP00000404119.1:n.1486+50_1486+62delinsCTCAATATTTGAT
ENST00000467848.1:n.190+50_190+62delinsCTCAATATTTGAT
ENST00000485278.5:n.2041+50_2041+62delinsCTCAATATTTGAT
NM_001077365.1:c.1486+50_1486+62delinsCTCAATATTTGAT NP_001070833.1:n.1486+50_1486+62delinsCTCAATATTTGAT
NM_001077366.1:c.1324+50_1324+62delinsCTCAATATTTGAT NP_001070834.1:n.1324+50_1324+62delinsCTCAATATTTGAT
NM_001136113.1:c.1486+50_1486+62delinsCTCAATATTTGAT NP_001129585.1:n.1486+50_1486+62delinsCTCAATATTTGAT
NM_001136114.1:c.1135+50_1135+62delinsCTCAATATTTGAT NP_001129586.1:n.1135+50_1135+62delinsCTCAATATTTGAT
NM_007171.3:c.1552+50_1552+62delinsCTCAATATTTGAT NP_009102.3:n.1552+50_1552+62delinsCTCAATATTTGAT
XM_005272156.1:c.1552+50_1552+62delinsCTCAATATTTGAT XP_005272213.1:n.1552+50_1552+62delinsCTCAATATTTGAT
XM_005272158.1:c.1390+50_1390+62delinsCTCAATATTTGAT XP_005272215.1:n.1390+50_1390+62delinsCTCAATATTTGAT
XM_005272159.1:c.1201+50_1201+62delinsCTCAATATTTGAT XP_005272216.1:n.1201+50_1201+62delinsCTCAATATTTGAT
XM_005272162.1:c.355+50_355+62delinsCTCAATATTTGAT XP_005272219.1:n.355+50_355+62delinsCTCAATATTTGAT
XM_006716932.1:c.1201+50_1201+62delinsCTCAATATTTGAT XP_006716995.1:n.1201+50_1201+62delinsCTCAATATTTGAT
XM_011518140.1:c.1405+50_1405+62delinsCTCAATATTTGAT XP_011516442.1:n.1405+50_1405+62delinsCTCAATATTTGAT
XM_011518141.1:c.1339+50_1339+62delinsCTCAATATTTGAT XP_011516443.1:n.1339+50_1339+62delinsCTCAATATTTGAT
XM_011518142.1:c.1243+50_1243+62delinsCTCAATATTTGAT XP_011516444.1:n.1243+50_1243+62delinsCTCAATATTTGAT
XM_011518143.1:c.1237+50_1237+62delinsCTCAATATTTGAT XP_011516445.1:n.1237+50_1237+62delinsCTCAATATTTGAT
XM_011518145.1:c.1096+50_1096+62delinsCTCAATATTTGAT XP_011516447.1:n.1096+50_1096+62delinsCTCAATATTTGAT
XM_011518147.1:c.424+50_424+62delinsCTCAATATTTGAT XP_011516449.1:n.424+50_424+62delinsCTCAATATTTGAT
XR_929703.1:n.1728+50_1728+62delinsCTCAATATTTGAT
NM_001353193.1:c.1552+50_1552+62delinsCTCAATATTTGAT NP_001340122.1:n.1552+50_1552+62delinsCTCAATATTTGAT
NM_001353194.1:c.1324+50_1324+62delinsCTCAATATTTGAT NP_001340123.1:n.1324+50_1324+62delinsCTCAATATTTGAT
NM_001353195.1:c.1135+50_1135+62delinsCTCAATATTTGAT NP_001340124.1:n.1135+50_1135+62delinsCTCAATATTTGAT
NM_001353196.1:c.1396+50_1396+62delinsCTCAATATTTGAT NP_001340125.1:n.1396+50_1396+62delinsCTCAATATTTGAT
NM_001353197.1:c.1390+50_1390+62delinsCTCAATATTTGAT NP_001340126.1:n.1390+50_1390+62delinsCTCAATATTTGAT
NM_001353198.1:c.1390+50_1390+62delinsCTCAATATTTGAT NP_001340127.1:n.1390+50_1390+62delinsCTCAATATTTGAT
NM_001353199.1:c.1201+50_1201+62delinsCTCAATATTTGAT NP_001340128.1:n.1201+50_1201+62delinsCTCAATATTTGAT
NM_001353200.1:c.1030+50_1030+62delinsCTCAATATTTGAT NP_001340129.1:n.1030+50_1030+62delinsCTCAATATTTGAT
NR_148391.1:n.1536+50_1536+62delinsCTCAATATTTGAT
NR_148392.1:n.1754+50_1754+62delinsCTCAATATTTGAT
NR_148393.1:n.1675+50_1675+62delinsCTCAATATTTGAT
NR_148394.1:n.1429+50_1429+62delinsCTCAATATTTGAT
NR_148395.1:n.1827+50_1827+62delinsCTCAATATTTGAT
NR_148396.1:n.1461+50_1461+62delinsCTCAATATTTGAT
NR_148397.1:n.1586+50_1586+62delinsCTCAATATTTGAT
NR_148398.1:n.1541+50_1541+62delinsCTCAATATTTGAT
NR_148399.1:n.2067+50_2067+62delinsCTCAATATTTGAT
NR_148400.1:n.1666+50_1666+62delinsCTCAATATTTGAT
XM_005272162.3:c.355+50_355+62delinsCTCAATATTTGAT XP_005272219.1:n.355+50_355+62delinsCTCAATATTTGAT
XM_006716932.2:c.1201+50_1201+62delinsCTCAATATTTGAT XP_006716995.1:n.1201+50_1201+62delinsCTCAATATTTGAT
XM_011518140.2:c.1405+50_1405+62delinsCTCAATATTTGAT XP_011516442.1:n.1405+50_1405+62delinsCTCAATATTTGAT
XM_011518141.2:c.1339+50_1339+62delinsCTCAATATTTGAT XP_011516443.1:n.1339+50_1339+62delinsCTCAATATTTGAT
XM_011518142.2:c.1243+50_1243+62delinsCTCAATATTTGAT XP_011516444.1:n.1243+50_1243+62delinsCTCAATATTTGAT
XM_011518143.2:c.1237+50_1237+62delinsCTCAATATTTGAT XP_011516445.1:n.1237+50_1237+62delinsCTCAATATTTGAT
XM_011518145.2:c.1096+50_1096+62delinsCTCAATATTTGAT XP_011516447.1:n.1096+50_1096+62delinsCTCAATATTTGAT
XM_017014205.2:c.355+50_355+62delinsCTCAATATTTGAT XP_016869694.1:n.355+50_355+62delinsCTCAATATTTGAT
XM_024447380.1:c.355+50_355+62delinsCTCAATATTTGAT XP_024303148.1:n.355+50_355+62delinsCTCAATATTTGAT
XM_024447381.1:c.661+50_661+62delinsCTCAATATTTGAT XP_024303149.1:n.661+50_661+62delinsCTCAATATTTGAT
XM_024447382.1:c.355+50_355+62delinsCTCAATATTTGAT XP_024303150.1:n.355+50_355+62delinsCTCAATATTTGAT
XR_001746160.2:n.1656+50_1656+62delinsCTCAATATTTGAT
XR_001746162.2:n.1861+50_1861+62delinsCTCAATATTTGAT
XR_001746164.1:n.1578+50_1578+62delinsCTCAATATTTGAT
XR_001746166.2:n.1873+50_1873+62delinsCTCAATATTTGAT
NM_001077365.2:c.1486+50_1486+62delinsCTCAATATTTGAT MANE Select NP_001070833.1:n.1486+50_1486+62delinsCTCAATATTTGAT
NM_001077366.2:c.1324+50_1324+62delinsCTCAATATTTGAT NP_001070834.1:n.1324+50_1324+62delinsCTCAATATTTGAT
NM_001136113.2:c.1486+50_1486+62delinsCTCAATATTTGAT NP_001129585.1:n.1486+50_1486+62delinsCTCAATATTTGAT
NM_001136114.2:c.1135+50_1135+62delinsCTCAATATTTGAT NP_001129586.1:n.1135+50_1135+62delinsCTCAATATTTGAT
NM_001353193.2:c.1552+50_1552+62delinsCTCAATATTTGAT NP_001340122.2:n.1552+50_1552+62delinsCTCAATATTTGAT
NM_001353194.2:c.1324+50_1324+62delinsCTCAATATTTGAT NP_001340123.1:n.1324+50_1324+62delinsCTCAATATTTGAT
NM_001353195.2:c.1135+50_1135+62delinsCTCAATATTTGAT NP_001340124.1:n.1135+50_1135+62delinsCTCAATATTTGAT
NM_001353196.2:c.1396+50_1396+62delinsCTCAATATTTGAT NP_001340125.1:n.1396+50_1396+62delinsCTCAATATTTGAT
NM_001353197.2:c.1390+50_1390+62delinsCTCAATATTTGAT NP_001340126.2:n.1390+50_1390+62delinsCTCAATATTTGAT
NM_001353198.2:c.1390+50_1390+62delinsCTCAATATTTGAT NP_001340127.2:n.1390+50_1390+62delinsCTCAATATTTGAT
NM_001353199.2:c.1201+50_1201+62delinsCTCAATATTTGAT NP_001340128.2:n.1201+50_1201+62delinsCTCAATATTTGAT
NM_001353200.2:c.1030+50_1030+62delinsCTCAATATTTGAT NP_001340129.1:n.1030+50_1030+62delinsCTCAATATTTGAT
NM_001374689.1:c.1474+50_1474+62delinsCTCAATATTTGAT NP_001361618.1:n.1474+50_1474+62delinsCTCAATATTTGAT
NM_001374690.1:c.1365+470_1365+482delinsCTCAATATTTGAT NP_001361619.1:n.1365+470_1365+482delinsCTCAATATTTGAT
NM_001374691.1:c.1135+50_1135+62delinsCTCAATATTTGAT NP_001361620.1:n.1135+50_1135+62delinsCTCAATATTTGAT
NM_001374692.1:c.1135+50_1135+62delinsCTCAATATTTGAT NP_001361621.1:n.1135+50_1135+62delinsCTCAATATTTGAT
NM_001374693.1:c.1135+50_1135+62delinsCTCAATATTTGAT NP_001361622.1:n.1135+50_1135+62delinsCTCAATATTTGAT
NM_001374695.1:c.1096+50_1096+62delinsCTCAATATTTGAT NP_001361624.1:n.1096+50_1096+62delinsCTCAATATTTGAT
NM_007171.4:c.1552+50_1552+62delinsCTCAATATTTGAT NP_009102.4:n.1552+50_1552+62delinsCTCAATATTTGAT
NR_148391.2:n.1520+50_1520+62delinsCTCAATATTTGAT
NR_148392.2:n.1738+50_1738+62delinsCTCAATATTTGAT
NR_148393.2:n.1659+50_1659+62delinsCTCAATATTTGAT
NR_148394.2:n.1413+50_1413+62delinsCTCAATATTTGAT
NR_148395.2:n.1811+50_1811+62delinsCTCAATATTTGAT
NR_148396.2:n.1445+50_1445+62delinsCTCAATATTTGAT
NR_148397.2:n.1570+50_1570+62delinsCTCAATATTTGAT
NR_148398.2:n.1525+50_1525+62delinsCTCAATATTTGAT
NR_148399.2:n.2051+50_2051+62delinsCTCAATATTTGAT
NR_148400.2:n.1650+50_1650+62delinsCTCAATATTTGAT
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