Canonical Allele Identifier: CA1881758286

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522177_131522180delinsCCTT , CM000671.2:g.131522177_131522180delinsCCTT	GRCh38
NC_000009.11:g.134397564_134397567delinsCCTT , CM000671.1:g.134397564_134397567delinsCCTT	GRCh37
NC_000009.10:g.133387385_133387388delinsCCTT	NCBI36
NG_008896.1:g.24276_24279delinsCCTT
NG_008896.2:g.24276_24279delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1794_1797delinsCCTT	ENSP00000343034.7:p.Ile598=
ENST00000404875.7:n.2496_2499delinsCCTT
ENST00000423007.6:c.2013_2016delinsCCTT	ENSP00000404119.2:p.Ile671=
ENST00000677295.2:c.*2300_*2303delinsCCTT	ENSP00000504346.2:n.*2300_*2303delinsCCTT
ENST00000678264.2:c.*2139_*2142delinsCCTT	ENSP00000503157.2:n.*2139_*2142delinsCCTT
ENST00000682070.1:n.2291-25_2291-22delinsCCTT
ENST00000682813.1:n.2360_2363delinsCCTT
ENST00000683392.1:n.4573-25_4573-22delinsCCTT
ENST00000683712.1:n.2361_2364delinsCCTT
ENST00000683900.1:n.3856_3859delinsCCTT
ENST00000684062.1:n.2622_2625delinsCCTT
ENST00000684579.1:n.3802_3805delinsCCTT
ENST00000684679.1:n.1183_1186delinsCCTT
ENST00000341012.12:c.1794_1797delinsCCTT	ENSP00000343034.7:p.Ile598=
ENST00000372220.5:c.825_828delinsCCTT	ENSP00000361294.5:p.Ile275=
ENST00000372228.9:c.2022_2025delinsCCTT	ENSP00000361302.3:p.Ile674=
ENST00000402686.8:c.1956_1959delinsCCTT MANE Select	ENSP00000385797.4:p.Ile652=
ENST00000676640.1:c.1956_1959delinsCCTT	ENSP00000503281.1:p.Ile652=
ENST00000676803.1:c.1017_1020delinsCCTT	ENSP00000503093.1:p.Ile339=
ENST00000676835.1:c.*1171_*1174delinsCCTT	ENSP00000502911.1:n.*1171_*1174delinsCCTT
ENST00000677029.1:c.1500_1503delinsCCTT	ENSP00000502936.1:p.Ile500=
ENST00000677099.1:c.*1666_*1669delinsCCTT	ENSP00000504553.1:n.*1666_*1669delinsCCTT
ENST00000677216.1:c.1605_1608delinsCCTT	ENSP00000503772.1:p.Ile535=
ENST00000677221.1:n.981_984delinsCCTT
ENST00000677295.1:c.*1203-25_*1203-22delinsCCTT	ENSP00000504346.1:n.*1203-25_*1203-22delinsCCTT
ENST00000677444.1:c.1901_1904delinsCCTT
ENST00000677586.1:n.1323_1326delinsCCTT
ENST00000677626.1:c.1605_1608delinsCCTT	ENSP00000503552.1:p.Ile535=
ENST00000677853.1:c.*964_*967delinsCCTT	ENSP00000503488.1:n.*964_*967delinsCCTT
ENST00000678202.1:n.1115_1118delinsCCTT
ENST00000678264.1:c.*1333_*1336delinsCCTT	ENSP00000503157.1:n.*1333_*1336delinsCCTT
ENST00000678303.1:c.1866_1869delinsCCTT	ENSP00000503696.1:p.Ile622=
ENST00000678366.1:c.*2205_*2208delinsCCTT	ENSP00000504353.1:n.*2205_*2208delinsCCTT
ENST00000678546.1:c.*1901_*1904delinsCCTT	ENSP00000503062.1:n.*1901_*1904delinsCCTT
ENST00000678548.1:c.*2095_*2098delinsCCTT	ENSP00000503934.1:n.*2095_*2098delinsCCTT
ENST00000678626.1:n.1792_1795delinsCCTT
ENST00000678739.1:c.*2147-25_*2147-22delinsCCTT	ENSP00000503806.1:n.*2147-25_*2147-22delinsCCTT
ENST00000678833.1:c.*1708_*1711delinsCCTT	ENSP00000503893.1:n.*1708_*1711delinsCCTT
ENST00000679023.1:c.1794_1797delinsCCTT	ENSP00000503718.1:p.Ile598=
ENST00000679076.1:c.1575_1578delinsCCTT
ENST00000679111.1:c.*712_*715delinsCCTT	ENSP00000504257.1:n.*712_*715delinsCCTT
ENST00000679189.1:c.1605_1608delinsCCTT	ENSP00000503356.1:p.Ile535=
ENST00000341012.11:c.1794_1797delinsCCTT	ENSP00000343034.7:p.Ile598=
ENST00000372220.4:c.819_822delinsCCTT	ENSP00000361294.4:p.Ile273=
ENST00000372228.7:c.2022_2025delinsCCTT	ENSP00000361302.3:p.Ile674=
ENST00000402686.7:c.1956_1959delinsCCTT	ENSP00000385797.3:p.Ile652=
ENST00000404875.6:c.1605_1608delinsCCTT	ENSP00000384531.2:p.Ile535=
ENST00000423007.5:c.1956_1959delinsCCTT	ENSP00000404119.1:p.Ile652=
ENST00000485278.5:n.2506_2509delinsCCTT
ENST00000494883.1:n.499_502delinsCCTT
NM_001077365.1:c.1956_1959delinsCCTT	NP_001070833.1:p.Ile652=
NM_001077366.1:c.1794_1797delinsCCTT	NP_001070834.1:p.Ile598=
NM_001136113.1:c.1956_1959delinsCCTT	NP_001129585.1:p.Ile652=
NM_001136114.1:c.1605_1608delinsCCTT	NP_001129586.1:p.Ile535=
NM_007171.3:c.2022_2025delinsCCTT	NP_009102.3:p.Ile674=
XM_005272156.1:c.2022_2025delinsCCTT	XP_005272213.1:p.Ile674=
XM_005272158.1:c.1860_1863delinsCCTT	XP_005272215.1:p.Ile620=
XM_005272159.1:c.1671_1674delinsCCTT	XP_005272216.1:p.Ile557=
XM_005272162.1:c.825_828delinsCCTT	XP_005272219.1:p.Ile275=
XM_006716932.1:c.1671_1674delinsCCTT	XP_006716995.1:p.Ile557=
XM_011518140.1:c.1875_1878delinsCCTT	XP_011516442.1:p.Ile625=
XM_011518141.1:c.1809_1812delinsCCTT	XP_011516443.1:p.Ile603=
XM_011518142.1:c.1713_1716delinsCCTT	XP_011516444.1:p.Ile571=
XM_011518143.1:c.1707_1710delinsCCTT	XP_011516445.1:p.Ile569=
XM_011518145.1:c.1566_1569delinsCCTT	XP_011516447.1:p.Ile522=
XM_011518147.1:c.894_897delinsCCTT	XP_011516449.1:p.Ile298=
XR_929703.1:n.2198_2201delinsCCTT
NM_001353193.1:c.2022_2025delinsCCTT	NP_001340122.1:p.Ile674=
NM_001353194.1:c.1794_1797delinsCCTT	NP_001340123.1:p.Ile598=
NM_001353195.1:c.1605_1608delinsCCTT	NP_001340124.1:p.Ile535=
NM_001353196.1:c.1866_1869delinsCCTT	NP_001340125.1:p.Ile622=
NM_001353197.1:c.1860_1863delinsCCTT	NP_001340126.1:p.Ile620=
NM_001353198.1:c.1860_1863delinsCCTT	NP_001340127.1:p.Ile620=
NM_001353199.1:c.1671_1674delinsCCTT	NP_001340128.1:p.Ile557=
NM_001353200.1:c.1500_1503delinsCCTT	NP_001340129.1:p.Ile500=
NR_148391.1:n.2006_2009delinsCCTT
NR_148392.1:n.2224_2227delinsCCTT
NR_148393.1:n.2145_2148delinsCCTT
NR_148394.1:n.1899_1902delinsCCTT
NR_148395.1:n.2297_2300delinsCCTT
NR_148396.1:n.1931_1934delinsCCTT
NR_148397.1:n.2056_2059delinsCCTT
NR_148398.1:n.2011_2014delinsCCTT
NR_148399.1:n.2537_2540delinsCCTT
NR_148400.1:n.2136_2139delinsCCTT
XM_005272162.3:c.825_828delinsCCTT	XP_005272219.1:p.Ile275=
XM_006716932.2:c.1671_1674delinsCCTT	XP_006716995.1:p.Ile557=
XM_011518140.2:c.1875_1878delinsCCTT	XP_011516442.1:p.Ile625=
XM_011518141.2:c.1809_1812delinsCCTT	XP_011516443.1:p.Ile603=
XM_011518142.2:c.1713_1716delinsCCTT	XP_011516444.1:p.Ile571=
XM_011518143.2:c.1707_1710delinsCCTT	XP_011516445.1:p.Ile569=
XM_011518145.2:c.1566_1569delinsCCTT	XP_011516447.1:p.Ile522=
XM_017014205.2:c.825_828delinsCCTT	XP_016869694.1:p.Ile275=
XM_024447380.1:c.825_828delinsCCTT	XP_024303148.1:p.Ile275=
XM_024447381.1:c.1131_1134delinsCCTT	XP_024303149.1:p.Ile377=
XM_024447382.1:c.825_828delinsCCTT	XP_024303150.1:p.Ile275=
XR_001746160.2:n.2126_2129delinsCCTT
XR_001746162.2:n.2331_2334delinsCCTT
XR_001746164.1:n.2048_2051delinsCCTT
XR_001746166.2:n.2343_2346delinsCCTT
NM_001077365.2:c.1956_1959delinsCCTT MANE Select	NP_001070833.1:p.Ile652=
NM_001077366.2:c.1794_1797delinsCCTT	NP_001070834.1:p.Ile598=
NM_001136113.2:c.1956_1959delinsCCTT	NP_001129585.1:p.Ile652=
NM_001136114.2:c.1605_1608delinsCCTT	NP_001129586.1:p.Ile535=
NM_001353193.2:c.2022_2025delinsCCTT	NP_001340122.2:p.Ile674=
NM_001353194.2:c.1794_1797delinsCCTT	NP_001340123.1:p.Ile598=
NM_001353195.2:c.1605_1608delinsCCTT	NP_001340124.1:p.Ile535=
NM_001353196.2:c.1866_1869delinsCCTT	NP_001340125.1:p.Ile622=
NM_001353197.2:c.1860_1863delinsCCTT	NP_001340126.2:p.Ile620=
NM_001353198.2:c.1860_1863delinsCCTT	NP_001340127.2:p.Ile620=
NM_001353199.2:c.1671_1674delinsCCTT	NP_001340128.2:p.Ile557=
NM_001353200.2:c.1500_1503delinsCCTT	NP_001340129.1:p.Ile500=
NM_001374689.1:c.1944_1947delinsCCTT	NP_001361618.1:p.Ile648=
NM_001374690.1:c.1737_1740delinsCCTT	NP_001361619.1:p.Ile579=
NM_001374691.1:c.1605_1608delinsCCTT	NP_001361620.1:p.Ile535=
NM_001374692.1:c.1605_1608delinsCCTT	NP_001361621.1:p.Ile535=
NM_001374693.1:c.1605_1608delinsCCTT	NP_001361622.1:p.Ile535=
NM_001374695.1:c.1566_1569delinsCCTT	NP_001361624.1:p.Ile522=
NM_007171.4:c.2022_2025delinsCCTT	NP_009102.4:p.Ile674=
NR_148391.2:n.1990_1993delinsCCTT
NR_148392.2:n.2208_2211delinsCCTT
NR_148393.2:n.2129_2132delinsCCTT
NR_148394.2:n.1883_1886delinsCCTT
NR_148395.2:n.2281_2284delinsCCTT
NR_148396.2:n.1915_1918delinsCCTT
NR_148397.2:n.2040_2043delinsCCTT
NR_148398.2:n.1995_1998delinsCCTT
NR_148399.2:n.2521_2524delinsCCTT
NR_148400.2:n.2120_2123delinsCCTT