Canonical Allele Identifier: CA2786114739
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522044_131522045insTAAAAAAAAA , CM000671.2:g.131522044_131522045insTAAAAAAAAA GRCh38
NC_000009.11:g.134397431_134397432insTAAAAAAAAA , CM000671.1:g.134397431_134397432insTAAAAAAAAA GRCh37
NC_000009.10:g.133387252_133387253insTAAAAAAAAA NCBI36
NG_008896.1:g.24143_24144insTAAAAAAAAA
NG_008896.2:g.24143_24144insTAAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1664-3_1664-2insTAAAAAAAAA ENSP00000343034.7:n.1664-3_1664-2insTAAAAAAAAA
ENST00000404875.7:n.2366-3_2366-2insTAAAAAAAAA
ENST00000423007.6:c.1883-3_1883-2insTAAAAAAAAA ENSP00000404119.2:n.1883-3_1883-2insTAAAAAAAAA
ENST00000677295.2:c.*2170-3_*2170-2insTAAAAAAAAA ENSP00000504346.2:n.*2170-3_*2170-2insTAAAAAAAAA
ENST00000678264.2:c.*2009-3_*2009-2insTAAAAAAAAA ENSP00000503157.2:n.*2009-3_*2009-2insTAAAAAAAAA
ENST00000682070.1:n.2291-158_2291-157insTAAAAAAAAA
ENST00000682813.1:n.2230-3_2230-2insTAAAAAAAAA
ENST00000683392.1:n.4573-158_4573-157insTAAAAAAAAA
ENST00000683712.1:n.2231-3_2231-2insTAAAAAAAAA
ENST00000683900.1:n.3726-3_3726-2insTAAAAAAAAA
ENST00000684062.1:n.2492-3_2492-2insTAAAAAAAAA
ENST00000684579.1:n.3672-3_3672-2insTAAAAAAAAA
ENST00000684679.1:n.1053-3_1053-2insTAAAAAAAAA
ENST00000341012.12:c.1664-3_1664-2insTAAAAAAAAA ENSP00000343034.7:n.1664-3_1664-2insTAAAAAAAAA
ENST00000372220.5:c.695-3_695-2insTAAAAAAAAA ENSP00000361294.5:n.695-3_695-2insTAAAAAAAAA
ENST00000372228.9:c.1892-3_1892-2insTAAAAAAAAA ENSP00000361302.3:n.1892-3_1892-2insTAAAAAAAAA
ENST00000402686.8:c.1826-3_1826-2insTAAAAAAAAA MANE Select ENSP00000385797.4:n.1826-3_1826-2insTAAAAAAAAA
ENST00000676640.1:c.1826-3_1826-2insTAAAAAAAAA ENSP00000503281.1:n.1826-3_1826-2insTAAAAAAAAA
ENST00000676803.1:c.887-3_887-2insTAAAAAAAAA ENSP00000503093.1:n.887-3_887-2insTAAAAAAAAA
ENST00000676835.1:c.*1041-3_*1041-2insTAAAAAAAAA ENSP00000502911.1:n.*1041-3_*1041-2insTAAAAAAAAA
ENST00000677029.1:c.1370-3_1370-2insTAAAAAAAAA ENSP00000502936.1:n.1370-3_1370-2insTAAAAAAAAA
ENST00000677099.1:c.*1536-3_*1536-2insTAAAAAAAAA ENSP00000504553.1:n.*1536-3_*1536-2insTAAAAAAAAA
ENST00000677216.1:c.1475-3_1475-2insTAAAAAAAAA ENSP00000503772.1:n.1475-3_1475-2insTAAAAAAAAA
ENST00000677221.1:n.851-3_851-2insTAAAAAAAAA
ENST00000677295.1:c.*1203-158_*1203-157insTAAAAAAAAA ENSP00000504346.1:n.*1203-158_*1203-157insTAAAAAAAAA
ENST00000677444.1:c.1771-3_1771-2insTAAAAAAAAA
ENST00000677586.1:n.1193-3_1193-2insTAAAAAAAAA
ENST00000677626.1:c.1475-3_1475-2insTAAAAAAAAA ENSP00000503552.1:n.1475-3_1475-2insTAAAAAAAAA
ENST00000677853.1:c.*834-3_*834-2insTAAAAAAAAA ENSP00000503488.1:n.*834-3_*834-2insTAAAAAAAAA
ENST00000678202.1:n.985-3_985-2insTAAAAAAAAA
ENST00000678264.1:c.*1203-3_*1203-2insTAAAAAAAAA ENSP00000503157.1:n.*1203-3_*1203-2insTAAAAAAAAA
ENST00000678303.1:c.1736-3_1736-2insTAAAAAAAAA ENSP00000503696.1:n.1736-3_1736-2insTAAAAAAAAA
ENST00000678366.1:c.*2075-3_*2075-2insTAAAAAAAAA ENSP00000504353.1:n.*2075-3_*2075-2insTAAAAAAAAA
ENST00000678546.1:c.*1771-3_*1771-2insTAAAAAAAAA ENSP00000503062.1:n.*1771-3_*1771-2insTAAAAAAAAA
ENST00000678548.1:c.*1962_*1963insTAAAAAAAAA ENSP00000503934.1:n.*1962_*1963insTAAAAAAAAA
ENST00000678626.1:n.1662-3_1662-2insTAAAAAAAAA
ENST00000678739.1:c.*2147-158_*2147-157insTAAAAAAAAA ENSP00000503806.1:n.*2147-158_*2147-157insTAAAAAAAAA
ENST00000678833.1:c.*1578-3_*1578-2insTAAAAAAAAA ENSP00000503893.1:n.*1578-3_*1578-2insTAAAAAAAAA
ENST00000679023.1:c.1664-3_1664-2insTAAAAAAAAA ENSP00000503718.1:n.1664-3_1664-2insTAAAAAAAAA
ENST00000679076.1:c.1445-3_1445-2insTAAAAAAAAA
ENST00000679111.1:c.*582-3_*582-2insTAAAAAAAAA ENSP00000504257.1:n.*582-3_*582-2insTAAAAAAAAA
ENST00000679189.1:c.1475-3_1475-2insTAAAAAAAAA ENSP00000503356.1:n.1475-3_1475-2insTAAAAAAAAA
ENST00000341012.11:c.1664-3_1664-2insTAAAAAAAAA ENSP00000343034.7:n.1664-3_1664-2insTAAAAAAAAA
ENST00000372220.4:c.689-3_689-2insTAAAAAAAAA ENSP00000361294.4:n.689-3_689-2insTAAAAAAAAA
ENST00000372228.7:c.1892-3_1892-2insTAAAAAAAAA ENSP00000361302.3:n.1892-3_1892-2insTAAAAAAAAA
ENST00000402686.7:c.1826-3_1826-2insTAAAAAAAAA ENSP00000385797.3:n.1826-3_1826-2insTAAAAAAAAA
ENST00000404875.6:c.1475-3_1475-2insTAAAAAAAAA ENSP00000384531.2:n.1475-3_1475-2insTAAAAAAAAA
ENST00000423007.5:c.1826-3_1826-2insTAAAAAAAAA ENSP00000404119.1:n.1826-3_1826-2insTAAAAAAAAA
ENST00000485278.5:n.2376-3_2376-2insTAAAAAAAAA
ENST00000494883.1:n.369-3_369-2insTAAAAAAAAA
NM_001077365.1:c.1826-3_1826-2insTAAAAAAAAA NP_001070833.1:n.1826-3_1826-2insTAAAAAAAAA
NM_001077366.1:c.1664-3_1664-2insTAAAAAAAAA NP_001070834.1:n.1664-3_1664-2insTAAAAAAAAA
NM_001136113.1:c.1826-3_1826-2insTAAAAAAAAA NP_001129585.1:n.1826-3_1826-2insTAAAAAAAAA
NM_001136114.1:c.1475-3_1475-2insTAAAAAAAAA NP_001129586.1:n.1475-3_1475-2insTAAAAAAAAA
NM_007171.3:c.1892-3_1892-2insTAAAAAAAAA NP_009102.3:n.1892-3_1892-2insTAAAAAAAAA
XM_005272156.1:c.1892-3_1892-2insTAAAAAAAAA XP_005272213.1:n.1892-3_1892-2insTAAAAAAAAA
XM_005272158.1:c.1730-3_1730-2insTAAAAAAAAA XP_005272215.1:n.1730-3_1730-2insTAAAAAAAAA
XM_005272159.1:c.1541-3_1541-2insTAAAAAAAAA XP_005272216.1:n.1541-3_1541-2insTAAAAAAAAA
XM_005272162.1:c.695-3_695-2insTAAAAAAAAA XP_005272219.1:n.695-3_695-2insTAAAAAAAAA
XM_006716932.1:c.1541-3_1541-2insTAAAAAAAAA XP_006716995.1:n.1541-3_1541-2insTAAAAAAAAA
XM_011518140.1:c.1745-3_1745-2insTAAAAAAAAA XP_011516442.1:n.1745-3_1745-2insTAAAAAAAAA
XM_011518141.1:c.1679-3_1679-2insTAAAAAAAAA XP_011516443.1:n.1679-3_1679-2insTAAAAAAAAA
XM_011518142.1:c.1583-3_1583-2insTAAAAAAAAA XP_011516444.1:n.1583-3_1583-2insTAAAAAAAAA
XM_011518143.1:c.1577-3_1577-2insTAAAAAAAAA XP_011516445.1:n.1577-3_1577-2insTAAAAAAAAA
XM_011518145.1:c.1436-3_1436-2insTAAAAAAAAA XP_011516447.1:n.1436-3_1436-2insTAAAAAAAAA
XM_011518147.1:c.764-3_764-2insTAAAAAAAAA XP_011516449.1:n.764-3_764-2insTAAAAAAAAA
XR_929703.1:n.2068-3_2068-2insTAAAAAAAAA
NM_001353193.1:c.1892-3_1892-2insTAAAAAAAAA NP_001340122.1:n.1892-3_1892-2insTAAAAAAAAA
NM_001353194.1:c.1664-3_1664-2insTAAAAAAAAA NP_001340123.1:n.1664-3_1664-2insTAAAAAAAAA
NM_001353195.1:c.1475-3_1475-2insTAAAAAAAAA NP_001340124.1:n.1475-3_1475-2insTAAAAAAAAA
NM_001353196.1:c.1736-3_1736-2insTAAAAAAAAA NP_001340125.1:n.1736-3_1736-2insTAAAAAAAAA
NM_001353197.1:c.1730-3_1730-2insTAAAAAAAAA NP_001340126.1:n.1730-3_1730-2insTAAAAAAAAA
NM_001353198.1:c.1730-3_1730-2insTAAAAAAAAA NP_001340127.1:n.1730-3_1730-2insTAAAAAAAAA
NM_001353199.1:c.1541-3_1541-2insTAAAAAAAAA NP_001340128.1:n.1541-3_1541-2insTAAAAAAAAA
NM_001353200.1:c.1370-3_1370-2insTAAAAAAAAA NP_001340129.1:n.1370-3_1370-2insTAAAAAAAAA
NR_148391.1:n.1876-3_1876-2insTAAAAAAAAA
NR_148392.1:n.2094-3_2094-2insTAAAAAAAAA
NR_148393.1:n.2015-3_2015-2insTAAAAAAAAA
NR_148394.1:n.1769-3_1769-2insTAAAAAAAAA
NR_148395.1:n.2167-3_2167-2insTAAAAAAAAA
NR_148396.1:n.1801-3_1801-2insTAAAAAAAAA
NR_148397.1:n.1926-3_1926-2insTAAAAAAAAA
NR_148398.1:n.1881-3_1881-2insTAAAAAAAAA
NR_148399.1:n.2407-3_2407-2insTAAAAAAAAA
NR_148400.1:n.2006-3_2006-2insTAAAAAAAAA
XM_005272162.3:c.695-3_695-2insTAAAAAAAAA XP_005272219.1:n.695-3_695-2insTAAAAAAAAA
XM_006716932.2:c.1541-3_1541-2insTAAAAAAAAA XP_006716995.1:n.1541-3_1541-2insTAAAAAAAAA
XM_011518140.2:c.1745-3_1745-2insTAAAAAAAAA XP_011516442.1:n.1745-3_1745-2insTAAAAAAAAA
XM_011518141.2:c.1679-3_1679-2insTAAAAAAAAA XP_011516443.1:n.1679-3_1679-2insTAAAAAAAAA
XM_011518142.2:c.1583-3_1583-2insTAAAAAAAAA XP_011516444.1:n.1583-3_1583-2insTAAAAAAAAA
XM_011518143.2:c.1577-3_1577-2insTAAAAAAAAA XP_011516445.1:n.1577-3_1577-2insTAAAAAAAAA
XM_011518145.2:c.1436-3_1436-2insTAAAAAAAAA XP_011516447.1:n.1436-3_1436-2insTAAAAAAAAA
XM_017014205.2:c.695-3_695-2insTAAAAAAAAA XP_016869694.1:n.695-3_695-2insTAAAAAAAAA
XM_024447380.1:c.695-3_695-2insTAAAAAAAAA XP_024303148.1:n.695-3_695-2insTAAAAAAAAA
XM_024447381.1:c.1001-3_1001-2insTAAAAAAAAA XP_024303149.1:n.1001-3_1001-2insTAAAAAAAAA
XM_024447382.1:c.695-3_695-2insTAAAAAAAAA XP_024303150.1:n.695-3_695-2insTAAAAAAAAA
XR_001746160.2:n.1996-3_1996-2insTAAAAAAAAA
XR_001746162.2:n.2201-3_2201-2insTAAAAAAAAA
XR_001746164.1:n.1918-3_1918-2insTAAAAAAAAA
XR_001746166.2:n.2213-3_2213-2insTAAAAAAAAA
NM_001077365.2:c.1826-3_1826-2insTAAAAAAAAA MANE Select NP_001070833.1:n.1826-3_1826-2insTAAAAAAAAA
NM_001077366.2:c.1664-3_1664-2insTAAAAAAAAA NP_001070834.1:n.1664-3_1664-2insTAAAAAAAAA
NM_001136113.2:c.1826-3_1826-2insTAAAAAAAAA NP_001129585.1:n.1826-3_1826-2insTAAAAAAAAA
NM_001136114.2:c.1475-3_1475-2insTAAAAAAAAA NP_001129586.1:n.1475-3_1475-2insTAAAAAAAAA
NM_001353193.2:c.1892-3_1892-2insTAAAAAAAAA NP_001340122.2:n.1892-3_1892-2insTAAAAAAAAA
NM_001353194.2:c.1664-3_1664-2insTAAAAAAAAA NP_001340123.1:n.1664-3_1664-2insTAAAAAAAAA
NM_001353195.2:c.1475-3_1475-2insTAAAAAAAAA NP_001340124.1:n.1475-3_1475-2insTAAAAAAAAA
NM_001353196.2:c.1736-3_1736-2insTAAAAAAAAA NP_001340125.1:n.1736-3_1736-2insTAAAAAAAAA
NM_001353197.2:c.1730-3_1730-2insTAAAAAAAAA NP_001340126.2:n.1730-3_1730-2insTAAAAAAAAA
NM_001353198.2:c.1730-3_1730-2insTAAAAAAAAA NP_001340127.2:n.1730-3_1730-2insTAAAAAAAAA
NM_001353199.2:c.1541-3_1541-2insTAAAAAAAAA NP_001340128.2:n.1541-3_1541-2insTAAAAAAAAA
NM_001353200.2:c.1370-3_1370-2insTAAAAAAAAA NP_001340129.1:n.1370-3_1370-2insTAAAAAAAAA
NM_001374689.1:c.1814-3_1814-2insTAAAAAAAAA NP_001361618.1:n.1814-3_1814-2insTAAAAAAAAA
NM_001374690.1:c.1607-3_1607-2insTAAAAAAAAA NP_001361619.1:n.1607-3_1607-2insTAAAAAAAAA
NM_001374691.1:c.1475-3_1475-2insTAAAAAAAAA NP_001361620.1:n.1475-3_1475-2insTAAAAAAAAA
NM_001374692.1:c.1475-3_1475-2insTAAAAAAAAA NP_001361621.1:n.1475-3_1475-2insTAAAAAAAAA
NM_001374693.1:c.1475-3_1475-2insTAAAAAAAAA NP_001361622.1:n.1475-3_1475-2insTAAAAAAAAA
NM_001374695.1:c.1436-3_1436-2insTAAAAAAAAA NP_001361624.1:n.1436-3_1436-2insTAAAAAAAAA
NM_007171.4:c.1892-3_1892-2insTAAAAAAAAA NP_009102.4:n.1892-3_1892-2insTAAAAAAAAA
NR_148391.2:n.1860-3_1860-2insTAAAAAAAAA
NR_148392.2:n.2078-3_2078-2insTAAAAAAAAA
NR_148393.2:n.1999-3_1999-2insTAAAAAAAAA
NR_148394.2:n.1753-3_1753-2insTAAAAAAAAA
NR_148395.2:n.2151-3_2151-2insTAAAAAAAAA
NR_148396.2:n.1785-3_1785-2insTAAAAAAAAA
NR_148397.2:n.1910-3_1910-2insTAAAAAAAAA
NR_148398.2:n.1865-3_1865-2insTAAAAAAAAA
NR_148399.2:n.2391-3_2391-2insTAAAAAAAAA
NR_148400.2:n.1990-3_1990-2insTAAAAAAAAA