Canonical Allele Identifier: CA2695211407

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522999_131523012del , CM000671.2:g.131522999_131523012del	GRCh38
NC_000009.11:g.134398386_134398399del , CM000671.1:g.134398386_134398399del	GRCh37
NC_000009.10:g.133388207_133388220del	NCBI36
NG_008896.1:g.25098_25111del
NG_008896.2:g.25098_25111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1909_1922del	ENSP00000343034.7:p.Ser637ProfsTer13
ENST00000404875.7:n.2611_2624del
ENST00000423007.6:c.2128_2141del	ENSP00000404119.2:p.Ser710ProfsTer13
ENST00000677295.2:c.*2415_*2428del	ENSP00000504346.2:n.*2415_*2428del
ENST00000678264.2:c.*2254_*2267del	ENSP00000503157.2:n.*2254_*2267del
ENST00000682070.1:n.2381_2394del
ENST00000682639.1:c.68_81del
ENST00000682813.1:n.2468_2481del
ENST00000683231.1:c.68_81del
ENST00000683392.1:n.4663_4676del
ENST00000683712.1:n.2476_2489del
ENST00000683900.1:n.3971_3984del
ENST00000684062.1:n.2737_2750del
ENST00000684399.1:c.68_81del
ENST00000684579.1:n.3917_3930del
ENST00000341012.12:c.1909_1922del	ENSP00000343034.7:p.Ser637ProfsTer13
ENST00000372220.5:c.940_953del	ENSP00000361294.5:p.Ser314ProfsTer13
ENST00000372228.9:c.2137_2150del	ENSP00000361302.3:p.Ser713ProfsTer13
ENST00000402686.8:c.2071_2084del MANE Select	ENSP00000385797.4:p.Ser691ProfsTer13
ENST00000676640.1:c.2071_2084del	ENSP00000503281.1:p.Ser691ProfsTer13
ENST00000676803.1:c.1132_1145del	ENSP00000503093.1:p.Ser378ProfsTer13
ENST00000676835.1:c.*1286_*1299del	ENSP00000502911.1:n.*1286_*1299del
ENST00000677029.1:c.1615_1628del	ENSP00000502936.1:p.Ser539ProfsTer13
ENST00000677099.1:c.*1781_*1794del	ENSP00000504553.1:n.*1781_*1794del
ENST00000677216.1:c.1720_1733del	ENSP00000503772.1:p.Ser574ProfsTer13
ENST00000677221.1:n.1096_1109del
ENST00000677295.1:c.*1293_*1306del	ENSP00000504346.1:n.*1293_*1306del
ENST00000677444.1:c.2016_2029del
ENST00000677586.1:n.1438_1451del
ENST00000677626.1:c.1720_1733del	ENSP00000503552.1:p.Ser574ProfsTer13
ENST00000677853.1:c.*1079_*1092del	ENSP00000503488.1:n.*1079_*1092del
ENST00000678264.1:c.*1448_*1461del	ENSP00000503157.1:n.*1448_*1461del
ENST00000678303.1:c.1981_1994del	ENSP00000503696.1:p.Ser661ProfsTer13
ENST00000678366.1:c.*2320_*2333del	ENSP00000504353.1:n.*2320_*2333del
ENST00000678546.1:c.*2016_*2029del	ENSP00000503062.1:n.*2016_*2029del
ENST00000678548.1:c.*2210_*2223del	ENSP00000503934.1:n.*2210_*2223del
ENST00000678626.1:n.1907_1920del
ENST00000678739.1:c.*2237_*2250del	ENSP00000503806.1:n.*2237_*2250del
ENST00000678833.1:c.*1823_*1836del	ENSP00000503893.1:n.*1823_*1836del
ENST00000679023.1:c.1909_1922del	ENSP00000503718.1:p.Ser637ProfsTer13
ENST00000679076.1:c.1690_1703del
ENST00000679111.1:c.*827_*840del	ENSP00000504257.1:n.*827_*840del
ENST00000679189.1:c.1720_1733del	ENSP00000503356.1:p.Ser574ProfsTer13
ENST00000341012.11:c.1909_1922del	ENSP00000343034.7:p.Ser637ProfsTer13
ENST00000372220.4:c.934_947del	ENSP00000361294.4:p.Ser312ProfsTer13
ENST00000372228.7:c.2137_2150del	ENSP00000361302.3:p.Ser713ProfsTer13
ENST00000402686.7:c.2071_2084del	ENSP00000385797.3:p.Ser691ProfsTer13
ENST00000404875.6:c.1720_1733del	ENSP00000384531.2:p.Ser574ProfsTer13
ENST00000423007.5:c.2071_2084del	ENSP00000404119.1:p.Ser691ProfsTer13
ENST00000485278.5:n.2621_2634del
NM_001077365.1:c.2071_2084del	NP_001070833.1:p.Ser691ProfsTer13
NM_001077366.1:c.1909_1922del	NP_001070834.1:p.Ser637ProfsTer13
NM_001136113.1:c.2071_2084del	NP_001129585.1:p.Ser691ProfsTer13
NM_001136114.1:c.1720_1733del	NP_001129586.1:p.Ser574ProfsTer13
NM_007171.3:c.2137_2150del	NP_009102.3:p.Ser713ProfsTer13
XM_005272156.1:c.2137_2150del	XP_005272213.1:p.Ser713ProfsTer13
XM_005272158.1:c.1975_1988del	XP_005272215.1:p.Ser659ProfsTer13
XM_005272159.1:c.1786_1799del	XP_005272216.1:p.Ser596ProfsTer13
XM_005272162.1:c.940_953del	XP_005272219.1:p.Ser314ProfsTer13
XM_006716932.1:c.1786_1799del	XP_006716995.1:p.Ser596ProfsTer13
XM_011518140.1:c.1990_2003del	XP_011516442.1:p.Ser664ProfsTer13
XM_011518141.1:c.1924_1937del	XP_011516443.1:p.Ser642ProfsTer13
XM_011518142.1:c.1828_1841del	XP_011516444.1:p.Ser610ProfsTer13
XM_011518143.1:c.1822_1835del	XP_011516445.1:p.Ser608ProfsTer13
XM_011518145.1:c.1681_1694del	XP_011516447.1:p.Ser561ProfsTer13
XM_011518147.1:c.1009_1022del	XP_011516449.1:p.Ser337ProfsTer13
XR_929703.1:n.2313_2326del
NM_001353193.1:c.2137_2150del	NP_001340122.1:p.Ser713ProfsTer13
NM_001353194.1:c.1909_1922del	NP_001340123.1:p.Ser637ProfsTer13
NM_001353195.1:c.1720_1733del	NP_001340124.1:p.Ser574ProfsTer13
NM_001353196.1:c.1981_1994del	NP_001340125.1:p.Ser661ProfsTer13
NM_001353197.1:c.1975_1988del	NP_001340126.1:p.Ser659ProfsTer13
NM_001353198.1:c.1975_1988del	NP_001340127.1:p.Ser659ProfsTer13
NM_001353199.1:c.1786_1799del	NP_001340128.1:p.Ser596ProfsTer13
NM_001353200.1:c.1615_1628del	NP_001340129.1:p.Ser539ProfsTer13
NR_148391.1:n.2121_2134del
NR_148392.1:n.2339_2352del
NR_148393.1:n.2260_2273del
NR_148394.1:n.2014_2027del
NR_148395.1:n.2412_2425del
NR_148396.1:n.2046_2059del
NR_148397.1:n.2171_2184del
NR_148398.1:n.2126_2139del
NR_148399.1:n.2652_2665del
NR_148400.1:n.2251_2264del
XM_005272162.3:c.940_953del	XP_005272219.1:p.Ser314ProfsTer13
XM_006716932.2:c.1786_1799del	XP_006716995.1:p.Ser596ProfsTer13
XM_011518140.2:c.1990_2003del	XP_011516442.1:p.Ser664ProfsTer13
XM_011518141.2:c.1924_1937del	XP_011516443.1:p.Ser642ProfsTer13
XM_011518142.2:c.1828_1841del	XP_011516444.1:p.Ser610ProfsTer13
XM_011518143.2:c.1822_1835del	XP_011516445.1:p.Ser608ProfsTer13
XM_011518145.2:c.1681_1694del	XP_011516447.1:p.Ser561ProfsTer13
XM_017014205.2:c.940_953del	XP_016869694.1:p.Ser314ProfsTer13
XM_024447380.1:c.940_953del	XP_024303148.1:p.Ser314ProfsTer13
XM_024447381.1:c.1246_1259del	XP_024303149.1:p.Ser416ProfsTer13
XM_024447382.1:c.940_953del	XP_024303150.1:p.Ser314ProfsTer13
XR_001746160.2:n.2241_2254del
XR_001746162.2:n.2446_2459del
XR_001746164.1:n.2163_2176del
XR_001746166.2:n.2458_2471del
NM_001077365.2:c.2071_2084del MANE Select	NP_001070833.1:p.Ser691ProfsTer13
NM_001077366.2:c.1909_1922del	NP_001070834.1:p.Ser637ProfsTer13
NM_001136113.2:c.2071_2084del	NP_001129585.1:p.Ser691ProfsTer13
NM_001136114.2:c.1720_1733del	NP_001129586.1:p.Ser574ProfsTer13
NM_001353193.2:c.2137_2150del	NP_001340122.2:p.Ser713ProfsTer13
NM_001353194.2:c.1909_1922del	NP_001340123.1:p.Ser637ProfsTer13
NM_001353195.2:c.1720_1733del	NP_001340124.1:p.Ser574ProfsTer13
NM_001353196.2:c.1981_1994del	NP_001340125.1:p.Ser661ProfsTer13
NM_001353197.2:c.1975_1988del	NP_001340126.2:p.Ser659ProfsTer13
NM_001353198.2:c.1975_1988del	NP_001340127.2:p.Ser659ProfsTer13
NM_001353199.2:c.1786_1799del	NP_001340128.2:p.Ser596ProfsTer13
NM_001353200.2:c.1615_1628del	NP_001340129.1:p.Ser539ProfsTer13
NM_001374689.1:c.2059_2072del	NP_001361618.1:p.Ser687ProfsTer13
NM_001374690.1:c.1852_1865del	NP_001361619.1:p.Ser618ProfsTer13
NM_001374691.1:c.1720_1733del	NP_001361620.1:p.Ser574ProfsTer13
NM_001374692.1:c.1720_1733del	NP_001361621.1:p.Ser574ProfsTer13
NM_001374693.1:c.1720_1733del	NP_001361622.1:p.Ser574ProfsTer13
NM_001374695.1:c.1681_1694del	NP_001361624.1:p.Ser561ProfsTer13
NM_007171.4:c.2137_2150del	NP_009102.4:p.Ser713ProfsTer13
NR_148391.2:n.2105_2118del
NR_148392.2:n.2323_2336del
NR_148393.2:n.2244_2257del
NR_148394.2:n.1998_2011del
NR_148395.2:n.2396_2409del
NR_148396.2:n.2030_2043del
NR_148397.2:n.2155_2168del
NR_148398.2:n.2110_2123del
NR_148399.2:n.2636_2649del
NR_148400.2:n.2235_2248del