Canonical Allele Identifier: CA2692219474
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521989_131521992del , CM000671.2:g.131521989_131521992del GRCh38
NC_000009.11:g.134397376_134397379del , CM000671.1:g.134397376_134397379del GRCh37
NC_000009.10:g.133387197_133387200del NCBI36
NG_008896.1:g.24088_24091del
NG_008896.2:g.24088_24091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1664-58_1664-55del ENSP00000343034.7:n.1664-58_1664-55del
ENST00000404875.7:n.2366-58_2366-55del
ENST00000423007.6:c.1883-58_1883-55del ENSP00000404119.2:n.1883-58_1883-55del
ENST00000677295.2:c.*2170-58_*2170-55del ENSP00000504346.2:n.*2170-58_*2170-55del
ENST00000678264.2:c.*2009-58_*2009-55del ENSP00000503157.2:n.*2009-58_*2009-55del
ENST00000682070.1:n.2291-213_2291-210del
ENST00000682813.1:n.2230-58_2230-55del
ENST00000683392.1:n.4573-213_4573-210del
ENST00000683712.1:n.2231-58_2231-55del
ENST00000683900.1:n.3726-58_3726-55del
ENST00000684062.1:n.2492-58_2492-55del
ENST00000684579.1:n.3672-58_3672-55del
ENST00000684679.1:n.1053-58_1053-55del
ENST00000341012.12:c.1664-58_1664-55del ENSP00000343034.7:n.1664-58_1664-55del
ENST00000372220.5:c.695-58_695-55del ENSP00000361294.5:n.695-58_695-55del
ENST00000372228.9:c.1892-58_1892-55del ENSP00000361302.3:n.1892-58_1892-55del
ENST00000402686.8:c.1826-58_1826-55del MANE Select ENSP00000385797.4:n.1826-58_1826-55del
ENST00000676640.1:c.1826-58_1826-55del ENSP00000503281.1:n.1826-58_1826-55del
ENST00000676803.1:c.887-58_887-55del ENSP00000503093.1:n.887-58_887-55del
ENST00000676835.1:c.*1041-58_*1041-55del ENSP00000502911.1:n.*1041-58_*1041-55del
ENST00000677029.1:c.1370-58_1370-55del ENSP00000502936.1:n.1370-58_1370-55del
ENST00000677099.1:c.*1536-58_*1536-55del ENSP00000504553.1:n.*1536-58_*1536-55del
ENST00000677216.1:c.1475-58_1475-55del ENSP00000503772.1:n.1475-58_1475-55del
ENST00000677221.1:n.851-58_851-55del
ENST00000677295.1:c.*1203-213_*1203-210del ENSP00000504346.1:n.*1203-213_*1203-210del
ENST00000677444.1:c.1771-58_1771-55del
ENST00000677586.1:n.1193-58_1193-55del
ENST00000677626.1:c.1475-58_1475-55del ENSP00000503552.1:n.1475-58_1475-55del
ENST00000677853.1:c.*834-58_*834-55del ENSP00000503488.1:n.*834-58_*834-55del
ENST00000678202.1:n.985-58_985-55del
ENST00000678264.1:c.*1203-58_*1203-55del ENSP00000503157.1:n.*1203-58_*1203-55del
ENST00000678303.1:c.1736-58_1736-55del ENSP00000503696.1:n.1736-58_1736-55del
ENST00000678366.1:c.*2075-58_*2075-55del ENSP00000504353.1:n.*2075-58_*2075-55del
ENST00000678546.1:c.*1771-58_*1771-55del ENSP00000503062.1:n.*1771-58_*1771-55del
ENST00000678548.1:c.*1907_*1910del ENSP00000503934.1:n.*1907_*1910del
ENST00000678626.1:n.1662-58_1662-55del
ENST00000678739.1:c.*2147-213_*2147-210del ENSP00000503806.1:n.*2147-213_*2147-210del
ENST00000678833.1:c.*1578-58_*1578-55del ENSP00000503893.1:n.*1578-58_*1578-55del
ENST00000679023.1:c.1664-58_1664-55del ENSP00000503718.1:n.1664-58_1664-55del
ENST00000679076.1:c.1445-58_1445-55del
ENST00000679111.1:c.*582-58_*582-55del ENSP00000504257.1:n.*582-58_*582-55del
ENST00000679189.1:c.1475-58_1475-55del ENSP00000503356.1:n.1475-58_1475-55del
ENST00000341012.11:c.1664-58_1664-55del ENSP00000343034.7:n.1664-58_1664-55del
ENST00000372220.4:c.689-58_689-55del ENSP00000361294.4:n.689-58_689-55del
ENST00000372228.7:c.1892-58_1892-55del ENSP00000361302.3:n.1892-58_1892-55del
ENST00000402686.7:c.1826-58_1826-55del ENSP00000385797.3:n.1826-58_1826-55del
ENST00000404875.6:c.1475-58_1475-55del ENSP00000384531.2:n.1475-58_1475-55del
ENST00000423007.5:c.1826-58_1826-55del ENSP00000404119.1:n.1826-58_1826-55del
ENST00000485278.5:n.2376-58_2376-55del
ENST00000494883.1:n.369-58_369-55del
NM_001077365.1:c.1826-58_1826-55del NP_001070833.1:n.1826-58_1826-55del
NM_001077366.1:c.1664-58_1664-55del NP_001070834.1:n.1664-58_1664-55del
NM_001136113.1:c.1826-58_1826-55del NP_001129585.1:n.1826-58_1826-55del
NM_001136114.1:c.1475-58_1475-55del NP_001129586.1:n.1475-58_1475-55del
NM_007171.3:c.1892-58_1892-55del NP_009102.3:n.1892-58_1892-55del
XM_005272156.1:c.1892-58_1892-55del XP_005272213.1:n.1892-58_1892-55del
XM_005272158.1:c.1730-58_1730-55del XP_005272215.1:n.1730-58_1730-55del
XM_005272159.1:c.1541-58_1541-55del XP_005272216.1:n.1541-58_1541-55del
XM_005272162.1:c.695-58_695-55del XP_005272219.1:n.695-58_695-55del
XM_006716932.1:c.1541-58_1541-55del XP_006716995.1:n.1541-58_1541-55del
XM_011518140.1:c.1745-58_1745-55del XP_011516442.1:n.1745-58_1745-55del
XM_011518141.1:c.1679-58_1679-55del XP_011516443.1:n.1679-58_1679-55del
XM_011518142.1:c.1583-58_1583-55del XP_011516444.1:n.1583-58_1583-55del
XM_011518143.1:c.1577-58_1577-55del XP_011516445.1:n.1577-58_1577-55del
XM_011518145.1:c.1436-58_1436-55del XP_011516447.1:n.1436-58_1436-55del
XM_011518147.1:c.764-58_764-55del XP_011516449.1:n.764-58_764-55del
XR_929703.1:n.2068-58_2068-55del
NM_001353193.1:c.1892-58_1892-55del NP_001340122.1:n.1892-58_1892-55del
NM_001353194.1:c.1664-58_1664-55del NP_001340123.1:n.1664-58_1664-55del
NM_001353195.1:c.1475-58_1475-55del NP_001340124.1:n.1475-58_1475-55del
NM_001353196.1:c.1736-58_1736-55del NP_001340125.1:n.1736-58_1736-55del
NM_001353197.1:c.1730-58_1730-55del NP_001340126.1:n.1730-58_1730-55del
NM_001353198.1:c.1730-58_1730-55del NP_001340127.1:n.1730-58_1730-55del
NM_001353199.1:c.1541-58_1541-55del NP_001340128.1:n.1541-58_1541-55del
NM_001353200.1:c.1370-58_1370-55del NP_001340129.1:n.1370-58_1370-55del
NR_148391.1:n.1876-58_1876-55del
NR_148392.1:n.2094-58_2094-55del
NR_148393.1:n.2015-58_2015-55del
NR_148394.1:n.1769-58_1769-55del
NR_148395.1:n.2167-58_2167-55del
NR_148396.1:n.1801-58_1801-55del
NR_148397.1:n.1926-58_1926-55del
NR_148398.1:n.1881-58_1881-55del
NR_148399.1:n.2407-58_2407-55del
NR_148400.1:n.2006-58_2006-55del
XM_005272162.3:c.695-58_695-55del XP_005272219.1:n.695-58_695-55del
XM_006716932.2:c.1541-58_1541-55del XP_006716995.1:n.1541-58_1541-55del
XM_011518140.2:c.1745-58_1745-55del XP_011516442.1:n.1745-58_1745-55del
XM_011518141.2:c.1679-58_1679-55del XP_011516443.1:n.1679-58_1679-55del
XM_011518142.2:c.1583-58_1583-55del XP_011516444.1:n.1583-58_1583-55del
XM_011518143.2:c.1577-58_1577-55del XP_011516445.1:n.1577-58_1577-55del
XM_011518145.2:c.1436-58_1436-55del XP_011516447.1:n.1436-58_1436-55del
XM_017014205.2:c.695-58_695-55del XP_016869694.1:n.695-58_695-55del
XM_024447380.1:c.695-58_695-55del XP_024303148.1:n.695-58_695-55del
XM_024447381.1:c.1001-58_1001-55del XP_024303149.1:n.1001-58_1001-55del
XM_024447382.1:c.695-58_695-55del XP_024303150.1:n.695-58_695-55del
XR_001746160.2:n.1996-58_1996-55del
XR_001746162.2:n.2201-58_2201-55del
XR_001746164.1:n.1918-58_1918-55del
XR_001746166.2:n.2213-58_2213-55del
NM_001077365.2:c.1826-58_1826-55del MANE Select NP_001070833.1:n.1826-58_1826-55del
NM_001077366.2:c.1664-58_1664-55del NP_001070834.1:n.1664-58_1664-55del
NM_001136113.2:c.1826-58_1826-55del NP_001129585.1:n.1826-58_1826-55del
NM_001136114.2:c.1475-58_1475-55del NP_001129586.1:n.1475-58_1475-55del
NM_001353193.2:c.1892-58_1892-55del NP_001340122.2:n.1892-58_1892-55del
NM_001353194.2:c.1664-58_1664-55del NP_001340123.1:n.1664-58_1664-55del
NM_001353195.2:c.1475-58_1475-55del NP_001340124.1:n.1475-58_1475-55del
NM_001353196.2:c.1736-58_1736-55del NP_001340125.1:n.1736-58_1736-55del
NM_001353197.2:c.1730-58_1730-55del NP_001340126.2:n.1730-58_1730-55del
NM_001353198.2:c.1730-58_1730-55del NP_001340127.2:n.1730-58_1730-55del
NM_001353199.2:c.1541-58_1541-55del NP_001340128.2:n.1541-58_1541-55del
NM_001353200.2:c.1370-58_1370-55del NP_001340129.1:n.1370-58_1370-55del
NM_001374689.1:c.1814-58_1814-55del NP_001361618.1:n.1814-58_1814-55del
NM_001374690.1:c.1607-58_1607-55del NP_001361619.1:n.1607-58_1607-55del
NM_001374691.1:c.1475-58_1475-55del NP_001361620.1:n.1475-58_1475-55del
NM_001374692.1:c.1475-58_1475-55del NP_001361621.1:n.1475-58_1475-55del
NM_001374693.1:c.1475-58_1475-55del NP_001361622.1:n.1475-58_1475-55del
NM_001374695.1:c.1436-58_1436-55del NP_001361624.1:n.1436-58_1436-55del
NM_007171.4:c.1892-58_1892-55del NP_009102.4:n.1892-58_1892-55del
NR_148391.2:n.1860-58_1860-55del
NR_148392.2:n.2078-58_2078-55del
NR_148393.2:n.1999-58_1999-55del
NR_148394.2:n.1753-58_1753-55del
NR_148395.2:n.2151-58_2151-55del
NR_148396.2:n.1785-58_1785-55del
NR_148397.2:n.1910-58_1910-55del
NR_148398.2:n.1865-58_1865-55del
NR_148399.2:n.2391-58_2391-55del
NR_148400.2:n.1990-58_1990-55del