Canonical Allele Identifier: CA860556877
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1429978127
gnomAD v3: 9-131519084-G-GTCATC
gnomAD v4: 9-131519084-G-GTCATC
MyVariant Identifiers: chr9:g.134394471_134394472insTCATC (hg19) chr9:g.131519084_131519085insTCATC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131519087_131519091dup , CM000671.2:g.131519087_131519091dup GRCh38
NC_000009.11:g.134394474_134394478dup , CM000671.1:g.134394474_134394478dup GRCh37
NC_000009.10:g.133384295_133384299dup NCBI36
NG_008896.1:g.21186_21190dup
NG_008896.2:g.21186_21190dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1324+130_1324+134dup ENSP00000343034.7:n.1324+130_1324+134dup
ENST00000404875.7:n.2026+130_2026+134dup
ENST00000423007.6:c.1543+130_1543+134dup ENSP00000404119.2:n.1543+130_1543+134dup
ENST00000677295.2:c.*1830+130_*1830+134dup ENSP00000504346.2:n.*1830+130_*1830+134dup
ENST00000678264.2:c.*1669+130_*1669+134dup ENSP00000503157.2:n.*1669+130_*1669+134dup
ENST00000682070.1:n.1951+130_1951+134dup
ENST00000682813.1:n.1890+130_1890+134dup
ENST00000683392.1:n.4233+130_4233+134dup
ENST00000683712.1:n.1891+130_1891+134dup
ENST00000683900.1:n.3386+130_3386+134dup
ENST00000684062.1:n.2152+130_2152+134dup
ENST00000684579.1:n.3332+130_3332+134dup
ENST00000684679.1:n.713+130_713+134dup
ENST00000341012.12:c.1324+130_1324+134dup ENSP00000343034.7:n.1324+130_1324+134dup
ENST00000372220.5:c.355+130_355+134dup ENSP00000361294.5:n.355+130_355+134dup
ENST00000372228.9:c.1552+130_1552+134dup ENSP00000361302.3:n.1552+130_1552+134dup
ENST00000402686.8:c.1486+130_1486+134dup MANE Select ENSP00000385797.4:n.1486+130_1486+134dup
ENST00000676640.1:c.1486+130_1486+134dup ENSP00000503281.1:n.1486+130_1486+134dup
ENST00000676803.1:c.661+130_661+134dup ENSP00000503093.1:n.661+130_661+134dup
ENST00000676835.1:c.*701+130_*701+134dup ENSP00000502911.1:n.*701+130_*701+134dup
ENST00000677029.1:c.1030+130_1030+134dup ENSP00000502936.1:n.1030+130_1030+134dup
ENST00000677099.1:c.*1196+130_*1196+134dup ENSP00000504553.1:n.*1196+130_*1196+134dup
ENST00000677216.1:c.1135+130_1135+134dup ENSP00000503772.1:n.1135+130_1135+134dup
ENST00000677221.1:n.511+130_511+134dup
ENST00000677295.1:c.*863+130_*863+134dup ENSP00000504346.1:n.*863+130_*863+134dup
ENST00000677444.1:c.1431+130_1431+134dup
ENST00000677586.1:n.967+130_967+134dup
ENST00000677626.1:c.1135+130_1135+134dup ENSP00000503552.1:n.1135+130_1135+134dup
ENST00000677677.1:n.1446+130_1446+134dup
ENST00000677853.1:c.*494+130_*494+134dup ENSP00000503488.1:n.*494+130_*494+134dup
ENST00000678202.1:n.645+130_645+134dup
ENST00000678264.1:c.*863+130_*863+134dup ENSP00000503157.1:n.*863+130_*863+134dup
ENST00000678303.1:c.1396+130_1396+134dup ENSP00000503696.1:n.1396+130_1396+134dup
ENST00000678366.1:c.*1735+130_*1735+134dup ENSP00000504353.1:n.*1735+130_*1735+134dup
ENST00000678546.1:c.*1431+130_*1431+134dup ENSP00000503062.1:n.*1431+130_*1431+134dup
ENST00000678548.1:c.*1558+130_*1558+134dup ENSP00000503934.1:n.*1558+130_*1558+134dup
ENST00000678626.1:n.1322+130_1322+134dup
ENST00000678733.1:c.567+130_567+134dup
ENST00000678739.1:c.*1812+130_*1812+134dup ENSP00000503806.1:n.*1812+130_*1812+134dup
ENST00000678833.1:c.*937_*941dup ENSP00000503893.1:n.*937_*941dup
ENST00000679023.1:c.1324+130_1324+134dup ENSP00000503718.1:n.1324+130_1324+134dup
ENST00000679076.1:c.1105+130_1105+134dup
ENST00000679111.1:c.*242+130_*242+134dup ENSP00000504257.1:n.*242+130_*242+134dup
ENST00000679189.1:c.1135+130_1135+134dup ENSP00000503356.1:n.1135+130_1135+134dup
ENST00000341012.11:c.1324+130_1324+134dup ENSP00000343034.7:n.1324+130_1324+134dup
ENST00000372220.4:c.349+130_349+134dup ENSP00000361294.4:n.349+130_349+134dup
ENST00000372228.7:c.1552+130_1552+134dup ENSP00000361302.3:n.1552+130_1552+134dup
ENST00000402686.7:c.1486+130_1486+134dup ENSP00000385797.3:n.1486+130_1486+134dup
ENST00000404875.6:c.1135+130_1135+134dup ENSP00000384531.2:n.1135+130_1135+134dup
ENST00000423007.5:c.1486+130_1486+134dup ENSP00000404119.1:n.1486+130_1486+134dup
ENST00000467848.1:n.190+130_190+134dup
ENST00000485278.5:n.2041+130_2041+134dup
NM_001077365.1:c.1486+130_1486+134dup NP_001070833.1:n.1486+130_1486+134dup
NM_001077366.1:c.1324+130_1324+134dup NP_001070834.1:n.1324+130_1324+134dup
NM_001136113.1:c.1486+130_1486+134dup NP_001129585.1:n.1486+130_1486+134dup
NM_001136114.1:c.1135+130_1135+134dup NP_001129586.1:n.1135+130_1135+134dup
NM_007171.3:c.1552+130_1552+134dup NP_009102.3:n.1552+130_1552+134dup
XM_005272156.1:c.1552+130_1552+134dup XP_005272213.1:n.1552+130_1552+134dup
XM_005272158.1:c.1390+130_1390+134dup XP_005272215.1:n.1390+130_1390+134dup
XM_005272159.1:c.1201+130_1201+134dup XP_005272216.1:n.1201+130_1201+134dup
XM_005272162.1:c.355+130_355+134dup XP_005272219.1:n.355+130_355+134dup
XM_006716932.1:c.1201+130_1201+134dup XP_006716995.1:n.1201+130_1201+134dup
XM_011518140.1:c.1405+130_1405+134dup XP_011516442.1:n.1405+130_1405+134dup
XM_011518141.1:c.1339+130_1339+134dup XP_011516443.1:n.1339+130_1339+134dup
XM_011518142.1:c.1243+130_1243+134dup XP_011516444.1:n.1243+130_1243+134dup
XM_011518143.1:c.1237+130_1237+134dup XP_011516445.1:n.1237+130_1237+134dup
XM_011518145.1:c.1096+130_1096+134dup XP_011516447.1:n.1096+130_1096+134dup
XM_011518147.1:c.424+130_424+134dup XP_011516449.1:n.424+130_424+134dup
XR_929703.1:n.1728+130_1728+134dup
NM_001353193.1:c.1552+130_1552+134dup NP_001340122.1:n.1552+130_1552+134dup
NM_001353194.1:c.1324+130_1324+134dup NP_001340123.1:n.1324+130_1324+134dup
NM_001353195.1:c.1135+130_1135+134dup NP_001340124.1:n.1135+130_1135+134dup
NM_001353196.1:c.1396+130_1396+134dup NP_001340125.1:n.1396+130_1396+134dup
NM_001353197.1:c.1390+130_1390+134dup NP_001340126.1:n.1390+130_1390+134dup
NM_001353198.1:c.1390+130_1390+134dup NP_001340127.1:n.1390+130_1390+134dup
NM_001353199.1:c.1201+130_1201+134dup NP_001340128.1:n.1201+130_1201+134dup
NM_001353200.1:c.1030+130_1030+134dup NP_001340129.1:n.1030+130_1030+134dup
NR_148391.1:n.1536+130_1536+134dup
NR_148392.1:n.1754+130_1754+134dup
NR_148393.1:n.1675+130_1675+134dup
NR_148394.1:n.1429+130_1429+134dup
NR_148395.1:n.1827+130_1827+134dup
NR_148396.1:n.1461+130_1461+134dup
NR_148397.1:n.1586+130_1586+134dup
NR_148398.1:n.1541+130_1541+134dup
NR_148399.1:n.2067+130_2067+134dup
NR_148400.1:n.1666+130_1666+134dup
XM_005272162.3:c.355+130_355+134dup XP_005272219.1:n.355+130_355+134dup
XM_006716932.2:c.1201+130_1201+134dup XP_006716995.1:n.1201+130_1201+134dup
XM_011518140.2:c.1405+130_1405+134dup XP_011516442.1:n.1405+130_1405+134dup
XM_011518141.2:c.1339+130_1339+134dup XP_011516443.1:n.1339+130_1339+134dup
XM_011518142.2:c.1243+130_1243+134dup XP_011516444.1:n.1243+130_1243+134dup
XM_011518143.2:c.1237+130_1237+134dup XP_011516445.1:n.1237+130_1237+134dup
XM_011518145.2:c.1096+130_1096+134dup XP_011516447.1:n.1096+130_1096+134dup
XM_017014205.2:c.355+130_355+134dup XP_016869694.1:n.355+130_355+134dup
XM_024447380.1:c.355+130_355+134dup XP_024303148.1:n.355+130_355+134dup
XM_024447381.1:c.661+130_661+134dup XP_024303149.1:n.661+130_661+134dup
XM_024447382.1:c.355+130_355+134dup XP_024303150.1:n.355+130_355+134dup
XR_001746160.2:n.1656+130_1656+134dup
XR_001746162.2:n.1861+130_1861+134dup
XR_001746164.1:n.1578+130_1578+134dup
XR_001746166.2:n.1873+130_1873+134dup
NM_001077365.2:c.1486+130_1486+134dup MANE Select NP_001070833.1:n.1486+130_1486+134dup
NM_001077366.2:c.1324+130_1324+134dup NP_001070834.1:n.1324+130_1324+134dup
NM_001136113.2:c.1486+130_1486+134dup NP_001129585.1:n.1486+130_1486+134dup
NM_001136114.2:c.1135+130_1135+134dup NP_001129586.1:n.1135+130_1135+134dup
NM_001353193.2:c.1552+130_1552+134dup NP_001340122.2:n.1552+130_1552+134dup
NM_001353194.2:c.1324+130_1324+134dup NP_001340123.1:n.1324+130_1324+134dup
NM_001353195.2:c.1135+130_1135+134dup NP_001340124.1:n.1135+130_1135+134dup
NM_001353196.2:c.1396+130_1396+134dup NP_001340125.1:n.1396+130_1396+134dup
NM_001353197.2:c.1390+130_1390+134dup NP_001340126.2:n.1390+130_1390+134dup
NM_001353198.2:c.1390+130_1390+134dup NP_001340127.2:n.1390+130_1390+134dup
NM_001353199.2:c.1201+130_1201+134dup NP_001340128.2:n.1201+130_1201+134dup
NM_001353200.2:c.1030+130_1030+134dup NP_001340129.1:n.1030+130_1030+134dup
NM_001374689.1:c.1474+130_1474+134dup NP_001361618.1:n.1474+130_1474+134dup
NM_001374690.1:c.1365+550_1365+554dup NP_001361619.1:n.1365+550_1365+554dup
NM_001374691.1:c.1135+130_1135+134dup NP_001361620.1:n.1135+130_1135+134dup
NM_001374692.1:c.1135+130_1135+134dup NP_001361621.1:n.1135+130_1135+134dup
NM_001374693.1:c.1135+130_1135+134dup NP_001361622.1:n.1135+130_1135+134dup
NM_001374695.1:c.1096+130_1096+134dup NP_001361624.1:n.1096+130_1096+134dup
NM_007171.4:c.1552+130_1552+134dup NP_009102.4:n.1552+130_1552+134dup
NR_148391.2:n.1520+130_1520+134dup
NR_148392.2:n.1738+130_1738+134dup
NR_148393.2:n.1659+130_1659+134dup
NR_148394.2:n.1413+130_1413+134dup
NR_148395.2:n.1811+130_1811+134dup
NR_148396.2:n.1445+130_1445+134dup
NR_148397.2:n.1570+130_1570+134dup
NR_148398.2:n.1525+130_1525+134dup
NR_148399.2:n.2051+130_2051+134dup
NR_148400.2:n.1650+130_1650+134dup
Search 100 bp 5'
Search 100 bp 3'