Canonical Allele Identifier: CA1881760122

Gene: POMT1

Linked Data

• dbSNP Id: rs1950270848

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522993_131523011del , CM000671.2:g.131522993_131523011del	GRCh38
NC_000009.11:g.134398380_134398398del , CM000671.1:g.134398380_134398398del	GRCh37
NC_000009.10:g.133388201_133388219del	NCBI36
NG_008896.1:g.25092_25110del
NG_008896.2:g.25092_25110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1903_1921del	ENSP00000343034.7:p.His635AlafsTer27
ENST00000404875.7:n.2605_2623del
ENST00000423007.6:c.2122_2140del	ENSP00000404119.2:p.His708AlafsTer27
ENST00000677295.2:c.*2409_*2427del	ENSP00000504346.2:n.*2409_*2427del
ENST00000678264.2:c.*2248_*2266del	ENSP00000503157.2:n.*2248_*2266del
ENST00000682070.1:n.2375_2393del
ENST00000682639.1:c.62_80del
ENST00000682813.1:n.2462_2480del
ENST00000683231.1:c.62_80del
ENST00000683392.1:n.4657_4675del
ENST00000683712.1:n.2470_2488del
ENST00000683900.1:n.3965_3983del
ENST00000684062.1:n.2731_2749del
ENST00000684399.1:c.62_80del
ENST00000684579.1:n.3911_3929del
ENST00000341012.12:c.1903_1921del	ENSP00000343034.7:p.His635AlafsTer27
ENST00000372220.5:c.934_952del	ENSP00000361294.5:p.His312AlafsTer27
ENST00000372228.9:c.2131_2149del	ENSP00000361302.3:p.His711AlafsTer27
ENST00000402686.8:c.2065_2083del MANE Select	ENSP00000385797.4:p.His689AlafsTer27
ENST00000676640.1:c.2065_2083del	ENSP00000503281.1:p.His689AlafsTer27
ENST00000676803.1:c.1126_1144del	ENSP00000503093.1:p.His376AlafsTer27
ENST00000676835.1:c.*1280_*1298del	ENSP00000502911.1:n.*1280_*1298del
ENST00000677029.1:c.1609_1627del	ENSP00000502936.1:p.His537AlafsTer27
ENST00000677099.1:c.*1775_*1793del	ENSP00000504553.1:n.*1775_*1793del
ENST00000677216.1:c.1714_1732del	ENSP00000503772.1:p.His572AlafsTer27
ENST00000677221.1:n.1090_1108del
ENST00000677295.1:c.*1287_*1305del	ENSP00000504346.1:n.*1287_*1305del
ENST00000677444.1:c.2010_2028del
ENST00000677586.1:n.1432_1450del
ENST00000677626.1:c.1714_1732del	ENSP00000503552.1:p.His572AlafsTer27
ENST00000677853.1:c.*1073_*1091del	ENSP00000503488.1:n.*1073_*1091del
ENST00000678264.1:c.*1442_*1460del	ENSP00000503157.1:n.*1442_*1460del
ENST00000678303.1:c.1975_1993del	ENSP00000503696.1:p.His659AlafsTer27
ENST00000678366.1:c.*2314_*2332del	ENSP00000504353.1:n.*2314_*2332del
ENST00000678546.1:c.*2010_*2028del	ENSP00000503062.1:n.*2010_*2028del
ENST00000678548.1:c.*2204_*2222del	ENSP00000503934.1:n.*2204_*2222del
ENST00000678626.1:n.1901_1919del
ENST00000678739.1:c.*2231_*2249del	ENSP00000503806.1:n.*2231_*2249del
ENST00000678833.1:c.*1817_*1835del	ENSP00000503893.1:n.*1817_*1835del
ENST00000679023.1:c.1903_1921del	ENSP00000503718.1:p.His635AlafsTer27
ENST00000679076.1:c.1684_1702del
ENST00000679111.1:c.*821_*839del	ENSP00000504257.1:n.*821_*839del
ENST00000679189.1:c.1714_1732del	ENSP00000503356.1:p.His572AlafsTer27
ENST00000341012.11:c.1903_1921del	ENSP00000343034.7:p.His635AlafsTer27
ENST00000372220.4:c.928_946del	ENSP00000361294.4:p.His310AlafsTer27
ENST00000372228.7:c.2131_2149del	ENSP00000361302.3:p.His711AlafsTer27
ENST00000402686.7:c.2065_2083del	ENSP00000385797.3:p.His689AlafsTer27
ENST00000404875.6:c.1714_1732del	ENSP00000384531.2:p.His572AlafsTer27
ENST00000423007.5:c.2065_2083del	ENSP00000404119.1:p.His689AlafsTer27
ENST00000485278.5:n.2615_2633del
NM_001077365.1:c.2065_2083del	NP_001070833.1:p.His689AlafsTer27
NM_001077366.1:c.1903_1921del	NP_001070834.1:p.His635AlafsTer27
NM_001136113.1:c.2065_2083del	NP_001129585.1:p.His689AlafsTer27
NM_001136114.1:c.1714_1732del	NP_001129586.1:p.His572AlafsTer27
NM_007171.3:c.2131_2149del	NP_009102.3:p.His711AlafsTer27
XM_005272156.1:c.2131_2149del	XP_005272213.1:p.His711AlafsTer27
XM_005272158.1:c.1969_1987del	XP_005272215.1:p.His657AlafsTer27
XM_005272159.1:c.1780_1798del	XP_005272216.1:p.His594AlafsTer27
XM_005272162.1:c.934_952del	XP_005272219.1:p.His312AlafsTer27
XM_006716932.1:c.1780_1798del	XP_006716995.1:p.His594AlafsTer27
XM_011518140.1:c.1984_2002del	XP_011516442.1:p.His662AlafsTer27
XM_011518141.1:c.1918_1936del	XP_011516443.1:p.His640AlafsTer27
XM_011518142.1:c.1822_1840del	XP_011516444.1:p.His608AlafsTer27
XM_011518143.1:c.1816_1834del	XP_011516445.1:p.His606AlafsTer27
XM_011518145.1:c.1675_1693del	XP_011516447.1:p.His559AlafsTer27
XM_011518147.1:c.1003_1021del	XP_011516449.1:p.His335AlafsTer27
XR_929703.1:n.2307_2325del
NM_001353193.1:c.2131_2149del	NP_001340122.1:p.His711AlafsTer27
NM_001353194.1:c.1903_1921del	NP_001340123.1:p.His635AlafsTer27
NM_001353195.1:c.1714_1732del	NP_001340124.1:p.His572AlafsTer27
NM_001353196.1:c.1975_1993del	NP_001340125.1:p.His659AlafsTer27
NM_001353197.1:c.1969_1987del	NP_001340126.1:p.His657AlafsTer27
NM_001353198.1:c.1969_1987del	NP_001340127.1:p.His657AlafsTer27
NM_001353199.1:c.1780_1798del	NP_001340128.1:p.His594AlafsTer27
NM_001353200.1:c.1609_1627del	NP_001340129.1:p.His537AlafsTer27
NR_148391.1:n.2115_2133del
NR_148392.1:n.2333_2351del
NR_148393.1:n.2254_2272del
NR_148394.1:n.2008_2026del
NR_148395.1:n.2406_2424del
NR_148396.1:n.2040_2058del
NR_148397.1:n.2165_2183del
NR_148398.1:n.2120_2138del
NR_148399.1:n.2646_2664del
NR_148400.1:n.2245_2263del
XM_005272162.3:c.934_952del	XP_005272219.1:p.His312AlafsTer27
XM_006716932.2:c.1780_1798del	XP_006716995.1:p.His594AlafsTer27
XM_011518140.2:c.1984_2002del	XP_011516442.1:p.His662AlafsTer27
XM_011518141.2:c.1918_1936del	XP_011516443.1:p.His640AlafsTer27
XM_011518142.2:c.1822_1840del	XP_011516444.1:p.His608AlafsTer27
XM_011518143.2:c.1816_1834del	XP_011516445.1:p.His606AlafsTer27
XM_011518145.2:c.1675_1693del	XP_011516447.1:p.His559AlafsTer27
XM_017014205.2:c.934_952del	XP_016869694.1:p.His312AlafsTer27
XM_024447380.1:c.934_952del	XP_024303148.1:p.His312AlafsTer27
XM_024447381.1:c.1240_1258del	XP_024303149.1:p.His414AlafsTer27
XM_024447382.1:c.934_952del	XP_024303150.1:p.His312AlafsTer27
XR_001746160.2:n.2235_2253del
XR_001746162.2:n.2440_2458del
XR_001746164.1:n.2157_2175del
XR_001746166.2:n.2452_2470del
NM_001077365.2:c.2065_2083del MANE Select	NP_001070833.1:p.His689AlafsTer27
NM_001077366.2:c.1903_1921del	NP_001070834.1:p.His635AlafsTer27
NM_001136113.2:c.2065_2083del	NP_001129585.1:p.His689AlafsTer27
NM_001136114.2:c.1714_1732del	NP_001129586.1:p.His572AlafsTer27
NM_001353193.2:c.2131_2149del	NP_001340122.2:p.His711AlafsTer27
NM_001353194.2:c.1903_1921del	NP_001340123.1:p.His635AlafsTer27
NM_001353195.2:c.1714_1732del	NP_001340124.1:p.His572AlafsTer27
NM_001353196.2:c.1975_1993del	NP_001340125.1:p.His659AlafsTer27
NM_001353197.2:c.1969_1987del	NP_001340126.2:p.His657AlafsTer27
NM_001353198.2:c.1969_1987del	NP_001340127.2:p.His657AlafsTer27
NM_001353199.2:c.1780_1798del	NP_001340128.2:p.His594AlafsTer27
NM_001353200.2:c.1609_1627del	NP_001340129.1:p.His537AlafsTer27
NM_001374689.1:c.2053_2071del	NP_001361618.1:p.His685AlafsTer27
NM_001374690.1:c.1846_1864del	NP_001361619.1:p.His616AlafsTer27
NM_001374691.1:c.1714_1732del	NP_001361620.1:p.His572AlafsTer27
NM_001374692.1:c.1714_1732del	NP_001361621.1:p.His572AlafsTer27
NM_001374693.1:c.1714_1732del	NP_001361622.1:p.His572AlafsTer27
NM_001374695.1:c.1675_1693del	NP_001361624.1:p.His559AlafsTer27
NM_007171.4:c.2131_2149del	NP_009102.4:p.His711AlafsTer27
NR_148391.2:n.2099_2117del
NR_148392.2:n.2317_2335del
NR_148393.2:n.2238_2256del
NR_148394.2:n.1992_2010del
NR_148395.2:n.2390_2408del
NR_148396.2:n.2024_2042del
NR_148397.2:n.2149_2167del
NR_148398.2:n.2104_2122del
NR_148399.2:n.2630_2648del
NR_148400.2:n.2229_2247del