Canonical Allele Identifier: CA2786114765

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523009_131523012del , CM000671.2:g.131523009_131523012del	GRCh38
NC_000009.11:g.134398396_134398399del , CM000671.1:g.134398396_134398399del	GRCh37
NC_000009.10:g.133388217_133388220del	NCBI36
NG_008896.1:g.25108_25111del
NG_008896.2:g.25108_25111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1919_1922del	ENSP00000343034.7:p.Leu640ProfsTer27
ENST00000404875.7:n.2621_2624del
ENST00000423007.6:c.2138_2141del	ENSP00000404119.2:p.Leu713ProfsTer27
ENST00000677295.2:c.*2425_*2428del	ENSP00000504346.2:n.*2425_*2428del
ENST00000678264.2:c.*2264_*2267del	ENSP00000503157.2:n.*2264_*2267del
ENST00000682070.1:n.2391_2394del
ENST00000682639.1:c.78_81del
ENST00000682813.1:n.2478_2481del
ENST00000683231.1:c.78_81del
ENST00000683392.1:n.4673_4676del
ENST00000683712.1:n.2486_2489del
ENST00000683900.1:n.3981_3984del
ENST00000684062.1:n.2747_2750del
ENST00000684399.1:c.78_81del
ENST00000684579.1:n.3927_3930del
ENST00000341012.12:c.1919_1922del	ENSP00000343034.7:p.Leu640ProfsTer27
ENST00000372220.5:c.950_953del	ENSP00000361294.5:p.Leu317ProfsTer27
ENST00000372228.9:c.2147_2150del	ENSP00000361302.3:p.Leu716ProfsTer27
ENST00000402686.8:c.2081_2084del MANE Select	ENSP00000385797.4:p.Leu694ProfsTer27
ENST00000676640.1:c.2081_2084del	ENSP00000503281.1:p.Leu694ProfsTer27
ENST00000676803.1:c.1142_1145del	ENSP00000503093.1:p.Leu381ProfsTer27
ENST00000676835.1:c.*1296_*1299del	ENSP00000502911.1:n.*1296_*1299del
ENST00000677029.1:c.1625_1628del	ENSP00000502936.1:p.Leu542ProfsTer27
ENST00000677099.1:c.*1791_*1794del	ENSP00000504553.1:n.*1791_*1794del
ENST00000677216.1:c.1730_1733del	ENSP00000503772.1:p.Leu577ProfsTer27
ENST00000677221.1:n.1106_1109del
ENST00000677295.1:c.*1303_*1306del	ENSP00000504346.1:n.*1303_*1306del
ENST00000677444.1:c.2026_2029del
ENST00000677586.1:n.1448_1451del
ENST00000677626.1:c.1730_1733del	ENSP00000503552.1:p.Leu577ProfsTer27
ENST00000677853.1:c.*1089_*1092del	ENSP00000503488.1:n.*1089_*1092del
ENST00000678264.1:c.*1458_*1461del	ENSP00000503157.1:n.*1458_*1461del
ENST00000678303.1:c.1991_1994del	ENSP00000503696.1:p.Leu664ProfsTer27
ENST00000678366.1:c.*2330_*2333del	ENSP00000504353.1:n.*2330_*2333del
ENST00000678546.1:c.*2026_*2029del	ENSP00000503062.1:n.*2026_*2029del
ENST00000678548.1:c.*2220_*2223del	ENSP00000503934.1:n.*2220_*2223del
ENST00000678626.1:n.1917_1920del
ENST00000678739.1:c.*2247_*2250del	ENSP00000503806.1:n.*2247_*2250del
ENST00000678833.1:c.*1833_*1836del	ENSP00000503893.1:n.*1833_*1836del
ENST00000679023.1:c.1919_1922del	ENSP00000503718.1:p.Leu640ProfsTer27
ENST00000679076.1:c.1700_1703del
ENST00000679111.1:c.*837_*840del	ENSP00000504257.1:n.*837_*840del
ENST00000679189.1:c.1730_1733del	ENSP00000503356.1:p.Leu577ProfsTer27
ENST00000341012.11:c.1919_1922del	ENSP00000343034.7:p.Leu640ProfsTer27
ENST00000372220.4:c.944_947del	ENSP00000361294.4:p.Leu315ProfsTer27
ENST00000372228.7:c.2147_2150del	ENSP00000361302.3:p.Leu716ProfsTer27
ENST00000402686.7:c.2081_2084del	ENSP00000385797.3:p.Leu694ProfsTer27
ENST00000404875.6:c.1730_1733del	ENSP00000384531.2:p.Leu577ProfsTer27
ENST00000423007.5:c.2081_2084del	ENSP00000404119.1:p.Leu694ProfsTer27
ENST00000485278.5:n.2631_2634del
NM_001077365.1:c.2081_2084del	NP_001070833.1:p.Leu694ProfsTer27
NM_001077366.1:c.1919_1922del	NP_001070834.1:p.Leu640ProfsTer27
NM_001136113.1:c.2081_2084del	NP_001129585.1:p.Leu694ProfsTer27
NM_001136114.1:c.1730_1733del	NP_001129586.1:p.Leu577ProfsTer27
NM_007171.3:c.2147_2150del	NP_009102.3:p.Leu716ProfsTer27
XM_005272156.1:c.2147_2150del	XP_005272213.1:p.Leu716ProfsTer27
XM_005272158.1:c.1985_1988del	XP_005272215.1:p.Leu662ProfsTer27
XM_005272159.1:c.1796_1799del	XP_005272216.1:p.Leu599ProfsTer27
XM_005272162.1:c.950_953del	XP_005272219.1:p.Leu317ProfsTer27
XM_006716932.1:c.1796_1799del	XP_006716995.1:p.Leu599ProfsTer27
XM_011518140.1:c.2000_2003del	XP_011516442.1:p.Leu667ProfsTer27
XM_011518141.1:c.1934_1937del	XP_011516443.1:p.Leu645ProfsTer27
XM_011518142.1:c.1838_1841del	XP_011516444.1:p.Leu613ProfsTer27
XM_011518143.1:c.1832_1835del	XP_011516445.1:p.Leu611ProfsTer27
XM_011518145.1:c.1691_1694del	XP_011516447.1:p.Leu564ProfsTer27
XM_011518147.1:c.1019_1022del	XP_011516449.1:p.Leu340ProfsTer27
XR_929703.1:n.2323_2326del
NM_001353193.1:c.2147_2150del	NP_001340122.1:p.Leu716ProfsTer27
NM_001353194.1:c.1919_1922del	NP_001340123.1:p.Leu640ProfsTer27
NM_001353195.1:c.1730_1733del	NP_001340124.1:p.Leu577ProfsTer27
NM_001353196.1:c.1991_1994del	NP_001340125.1:p.Leu664ProfsTer27
NM_001353197.1:c.1985_1988del	NP_001340126.1:p.Leu662ProfsTer27
NM_001353198.1:c.1985_1988del	NP_001340127.1:p.Leu662ProfsTer27
NM_001353199.1:c.1796_1799del	NP_001340128.1:p.Leu599ProfsTer27
NM_001353200.1:c.1625_1628del	NP_001340129.1:p.Leu542ProfsTer27
NR_148391.1:n.2131_2134del
NR_148392.1:n.2349_2352del
NR_148393.1:n.2270_2273del
NR_148394.1:n.2024_2027del
NR_148395.1:n.2422_2425del
NR_148396.1:n.2056_2059del
NR_148397.1:n.2181_2184del
NR_148398.1:n.2136_2139del
NR_148399.1:n.2662_2665del
NR_148400.1:n.2261_2264del
XM_005272162.3:c.950_953del	XP_005272219.1:p.Leu317ProfsTer27
XM_006716932.2:c.1796_1799del	XP_006716995.1:p.Leu599ProfsTer27
XM_011518140.2:c.2000_2003del	XP_011516442.1:p.Leu667ProfsTer27
XM_011518141.2:c.1934_1937del	XP_011516443.1:p.Leu645ProfsTer27
XM_011518142.2:c.1838_1841del	XP_011516444.1:p.Leu613ProfsTer27
XM_011518143.2:c.1832_1835del	XP_011516445.1:p.Leu611ProfsTer27
XM_011518145.2:c.1691_1694del	XP_011516447.1:p.Leu564ProfsTer27
XM_017014205.2:c.950_953del	XP_016869694.1:p.Leu317ProfsTer27
XM_024447380.1:c.950_953del	XP_024303148.1:p.Leu317ProfsTer27
XM_024447381.1:c.1256_1259del	XP_024303149.1:p.Leu419ProfsTer27
XM_024447382.1:c.950_953del	XP_024303150.1:p.Leu317ProfsTer27
XR_001746160.2:n.2251_2254del
XR_001746162.2:n.2456_2459del
XR_001746164.1:n.2173_2176del
XR_001746166.2:n.2468_2471del
NM_001077365.2:c.2081_2084del MANE Select	NP_001070833.1:p.Leu694ProfsTer27
NM_001077366.2:c.1919_1922del	NP_001070834.1:p.Leu640ProfsTer27
NM_001136113.2:c.2081_2084del	NP_001129585.1:p.Leu694ProfsTer27
NM_001136114.2:c.1730_1733del	NP_001129586.1:p.Leu577ProfsTer27
NM_001353193.2:c.2147_2150del	NP_001340122.2:p.Leu716ProfsTer27
NM_001353194.2:c.1919_1922del	NP_001340123.1:p.Leu640ProfsTer27
NM_001353195.2:c.1730_1733del	NP_001340124.1:p.Leu577ProfsTer27
NM_001353196.2:c.1991_1994del	NP_001340125.1:p.Leu664ProfsTer27
NM_001353197.2:c.1985_1988del	NP_001340126.2:p.Leu662ProfsTer27
NM_001353198.2:c.1985_1988del	NP_001340127.2:p.Leu662ProfsTer27
NM_001353199.2:c.1796_1799del	NP_001340128.2:p.Leu599ProfsTer27
NM_001353200.2:c.1625_1628del	NP_001340129.1:p.Leu542ProfsTer27
NM_001374689.1:c.2069_2072del	NP_001361618.1:p.Leu690ProfsTer27
NM_001374690.1:c.1862_1865del	NP_001361619.1:p.Leu621ProfsTer27
NM_001374691.1:c.1730_1733del	NP_001361620.1:p.Leu577ProfsTer27
NM_001374692.1:c.1730_1733del	NP_001361621.1:p.Leu577ProfsTer27
NM_001374693.1:c.1730_1733del	NP_001361622.1:p.Leu577ProfsTer27
NM_001374695.1:c.1691_1694del	NP_001361624.1:p.Leu564ProfsTer27
NM_007171.4:c.2147_2150del	NP_009102.4:p.Leu716ProfsTer27
NR_148391.2:n.2115_2118del
NR_148392.2:n.2333_2336del
NR_148393.2:n.2254_2257del
NR_148394.2:n.2008_2011del
NR_148395.2:n.2406_2409del
NR_148396.2:n.2040_2043del
NR_148397.2:n.2165_2168del
NR_148398.2:n.2120_2123del
NR_148399.2:n.2646_2649del
NR_148400.2:n.2245_2248del