Canonical Allele Identifier: CA1881760489
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523069_131523073delinsGGAAA , CM000671.2:g.131523069_131523073delinsGGAAA GRCh38
NC_000009.11:g.134398456_134398460delinsGGAAA , CM000671.1:g.134398456_134398460delinsGGAAA GRCh37
NC_000009.10:g.133388277_133388281delinsGGAAA NCBI36
NG_008896.1:g.25168_25172delinsGGAAA
NG_008896.2:g.25168_25172delinsGGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1979_1983delinsGGAAA ENSP00000343034.7:p.Trp660=
ENST00000404875.7:n.2681_2685delinsGGAAA
ENST00000423007.6:c.2198_2202delinsGGAAA ENSP00000404119.2:p.Trp733=
ENST00000677295.2:c.*2485_*2489delinsGGAAA ENSP00000504346.2:n.*2485_*2489delinsGGAAA
ENST00000678264.2:c.*2324_*2328delinsGGAAA ENSP00000503157.2:n.*2324_*2328delinsGGAAA
ENST00000682070.1:n.2451_2455delinsGGAAA
ENST00000682639.1:c.138_142delinsGGAAA
ENST00000682813.1:n.2538_2542delinsGGAAA
ENST00000683231.1:c.138_142delinsGGAAA
ENST00000683392.1:n.4733_4737delinsGGAAA
ENST00000683712.1:n.2546_2550delinsGGAAA
ENST00000683900.1:n.4041_4045delinsGGAAA
ENST00000684062.1:n.2807_2811delinsGGAAA
ENST00000684399.1:c.138_142delinsGGAAA
ENST00000684579.1:n.3987_3991delinsGGAAA
ENST00000341012.12:c.1979_1983delinsGGAAA ENSP00000343034.7:p.Trp660=
ENST00000372220.5:c.1010_1014delinsGGAAA ENSP00000361294.5:p.Trp337=
ENST00000372228.9:c.2207_2211delinsGGAAA ENSP00000361302.3:p.Trp736=
ENST00000402686.8:c.2141_2145delinsGGAAA MANE Select ENSP00000385797.4:p.Trp714=
ENST00000676640.1:c.2141_2145delinsGGAAA ENSP00000503281.1:p.Trp714=
ENST00000676803.1:c.1202_1206delinsGGAAA ENSP00000503093.1:p.Trp401=
ENST00000676835.1:c.*1356_*1360delinsGGAAA ENSP00000502911.1:n.*1356_*1360delinsGGAAA
ENST00000677029.1:c.1685_1689delinsGGAAA ENSP00000502936.1:p.Trp562=
ENST00000677099.1:c.*1851_*1855delinsGGAAA ENSP00000504553.1:n.*1851_*1855delinsGGAAA
ENST00000677216.1:c.1790_1794delinsGGAAA ENSP00000503772.1:p.Trp597=
ENST00000677295.1:c.*1363_*1367delinsGGAAA ENSP00000504346.1:n.*1363_*1367delinsGGAAA
ENST00000677444.1:c.2086_2090delinsGGAAA
ENST00000677586.1:n.1508_1512delinsGGAAA
ENST00000677626.1:c.1790_1794delinsGGAAA ENSP00000503552.1:p.Trp597=
ENST00000677853.1:c.*1149_*1153delinsGGAAA ENSP00000503488.1:n.*1149_*1153delinsGGAAA
ENST00000678264.1:c.*1518_*1522delinsGGAAA ENSP00000503157.1:n.*1518_*1522delinsGGAAA
ENST00000678303.1:c.2051_2055delinsGGAAA ENSP00000503696.1:p.Trp684=
ENST00000678366.1:c.*2390_*2394delinsGGAAA ENSP00000504353.1:n.*2390_*2394delinsGGAAA
ENST00000678546.1:c.*2086_*2090delinsGGAAA ENSP00000503062.1:n.*2086_*2090delinsGGAAA
ENST00000678548.1:c.*2280_*2284delinsGGAAA ENSP00000503934.1:n.*2280_*2284delinsGGAAA
ENST00000678626.1:n.1977_1981delinsGGAAA
ENST00000678739.1:c.*2307_*2311delinsGGAAA ENSP00000503806.1:n.*2307_*2311delinsGGAAA
ENST00000678833.1:c.*1893_*1897delinsGGAAA ENSP00000503893.1:n.*1893_*1897delinsGGAAA
ENST00000679023.1:c.1979_1983delinsGGAAA ENSP00000503718.1:p.Trp660=
ENST00000679076.1:c.1760_1764delinsGGAAA
ENST00000679111.1:c.*897_*901delinsGGAAA ENSP00000504257.1:n.*897_*901delinsGGAAA
ENST00000679189.1:c.1790_1794delinsGGAAA ENSP00000503356.1:p.Trp597=
ENST00000341012.11:c.1979_1983delinsGGAAA ENSP00000343034.7:p.Trp660=
ENST00000372220.4:c.1004_1008delinsGGAAA ENSP00000361294.4:p.Trp335=
ENST00000372228.7:c.2207_2211delinsGGAAA ENSP00000361302.3:p.Trp736=
ENST00000402686.7:c.2141_2145delinsGGAAA ENSP00000385797.3:p.Trp714=
ENST00000404875.6:c.1790_1794delinsGGAAA ENSP00000384531.2:p.Trp597=
ENST00000423007.5:c.2141_2145delinsGGAAA ENSP00000404119.1:p.Trp714=
ENST00000485278.5:n.2691_2695delinsGGAAA
NM_001077365.1:c.2141_2145delinsGGAAA NP_001070833.1:p.Trp714=
NM_001077366.1:c.1979_1983delinsGGAAA NP_001070834.1:p.Trp660=
NM_001136113.1:c.2141_2145delinsGGAAA NP_001129585.1:p.Trp714=
NM_001136114.1:c.1790_1794delinsGGAAA NP_001129586.1:p.Trp597=
NM_007171.3:c.2207_2211delinsGGAAA NP_009102.3:p.Trp736=
XM_005272156.1:c.2207_2211delinsGGAAA XP_005272213.1:p.Trp736=
XM_005272158.1:c.2045_2049delinsGGAAA XP_005272215.1:p.Trp682=
XM_005272159.1:c.1856_1860delinsGGAAA XP_005272216.1:p.Trp619=
XM_005272162.1:c.1010_1014delinsGGAAA XP_005272219.1:p.Trp337=
XM_006716932.1:c.1856_1860delinsGGAAA XP_006716995.1:p.Trp619=
XM_011518140.1:c.2060_2064delinsGGAAA XP_011516442.1:p.Trp687=
XM_011518141.1:c.1994_1998delinsGGAAA XP_011516443.1:p.Trp665=
XM_011518142.1:c.1898_1902delinsGGAAA XP_011516444.1:p.Trp633=
XM_011518143.1:c.1892_1896delinsGGAAA XP_011516445.1:p.Trp631=
XM_011518145.1:c.1751_1755delinsGGAAA XP_011516447.1:p.Trp584=
XM_011518147.1:c.1079_1083delinsGGAAA XP_011516449.1:p.Trp360=
XR_929703.1:n.2383_2387delinsGGAAA
NM_001353193.1:c.2207_2211delinsGGAAA NP_001340122.1:p.Trp736=
NM_001353194.1:c.1979_1983delinsGGAAA NP_001340123.1:p.Trp660=
NM_001353195.1:c.1790_1794delinsGGAAA NP_001340124.1:p.Trp597=
NM_001353196.1:c.2051_2055delinsGGAAA NP_001340125.1:p.Trp684=
NM_001353197.1:c.2045_2049delinsGGAAA NP_001340126.1:p.Trp682=
NM_001353198.1:c.2045_2049delinsGGAAA NP_001340127.1:p.Trp682=
NM_001353199.1:c.1856_1860delinsGGAAA NP_001340128.1:p.Trp619=
NM_001353200.1:c.1685_1689delinsGGAAA NP_001340129.1:p.Trp562=
NR_148391.1:n.2191_2195delinsGGAAA
NR_148392.1:n.2409_2413delinsGGAAA
NR_148393.1:n.2330_2334delinsGGAAA
NR_148394.1:n.2084_2088delinsGGAAA
NR_148395.1:n.2482_2486delinsGGAAA
NR_148396.1:n.2116_2120delinsGGAAA
NR_148397.1:n.2241_2245delinsGGAAA
NR_148398.1:n.2196_2200delinsGGAAA
NR_148399.1:n.2722_2726delinsGGAAA
NR_148400.1:n.2321_2325delinsGGAAA
XM_005272162.3:c.1010_1014delinsGGAAA XP_005272219.1:p.Trp337=
XM_006716932.2:c.1856_1860delinsGGAAA XP_006716995.1:p.Trp619=
XM_011518140.2:c.2060_2064delinsGGAAA XP_011516442.1:p.Trp687=
XM_011518141.2:c.1994_1998delinsGGAAA XP_011516443.1:p.Trp665=
XM_011518142.2:c.1898_1902delinsGGAAA XP_011516444.1:p.Trp633=
XM_011518143.2:c.1892_1896delinsGGAAA XP_011516445.1:p.Trp631=
XM_011518145.2:c.1751_1755delinsGGAAA XP_011516447.1:p.Trp584=
XM_017014205.2:c.1010_1014delinsGGAAA XP_016869694.1:p.Trp337=
XM_024447380.1:c.1010_1014delinsGGAAA XP_024303148.1:p.Trp337=
XM_024447381.1:c.1316_1320delinsGGAAA XP_024303149.1:p.Trp439=
XM_024447382.1:c.1010_1014delinsGGAAA XP_024303150.1:p.Trp337=
XR_001746160.2:n.2311_2315delinsGGAAA
XR_001746162.2:n.2516_2520delinsGGAAA
XR_001746164.1:n.2233_2237delinsGGAAA
XR_001746166.2:n.2528_2532delinsGGAAA
NM_001077365.2:c.2141_2145delinsGGAAA MANE Select NP_001070833.1:p.Trp714=
NM_001077366.2:c.1979_1983delinsGGAAA NP_001070834.1:p.Trp660=
NM_001136113.2:c.2141_2145delinsGGAAA NP_001129585.1:p.Trp714=
NM_001136114.2:c.1790_1794delinsGGAAA NP_001129586.1:p.Trp597=
NM_001353193.2:c.2207_2211delinsGGAAA NP_001340122.2:p.Trp736=
NM_001353194.2:c.1979_1983delinsGGAAA NP_001340123.1:p.Trp660=
NM_001353195.2:c.1790_1794delinsGGAAA NP_001340124.1:p.Trp597=
NM_001353196.2:c.2051_2055delinsGGAAA NP_001340125.1:p.Trp684=
NM_001353197.2:c.2045_2049delinsGGAAA NP_001340126.2:p.Trp682=
NM_001353198.2:c.2045_2049delinsGGAAA NP_001340127.2:p.Trp682=
NM_001353199.2:c.1856_1860delinsGGAAA NP_001340128.2:p.Trp619=
NM_001353200.2:c.1685_1689delinsGGAAA NP_001340129.1:p.Trp562=
NM_001374689.1:c.2129_2133delinsGGAAA NP_001361618.1:p.Trp710=
NM_001374690.1:c.1922_1926delinsGGAAA NP_001361619.1:p.Trp641=
NM_001374691.1:c.1790_1794delinsGGAAA NP_001361620.1:p.Trp597=
NM_001374692.1:c.1790_1794delinsGGAAA NP_001361621.1:p.Trp597=
NM_001374693.1:c.1790_1794delinsGGAAA NP_001361622.1:p.Trp597=
NM_001374695.1:c.1751_1755delinsGGAAA NP_001361624.1:p.Trp584=
NM_007171.4:c.2207_2211delinsGGAAA NP_009102.4:p.Trp736=
NR_148391.2:n.2175_2179delinsGGAAA
NR_148392.2:n.2393_2397delinsGGAAA
NR_148393.2:n.2314_2318delinsGGAAA
NR_148394.2:n.2068_2072delinsGGAAA
NR_148395.2:n.2466_2470delinsGGAAA
NR_148396.2:n.2100_2104delinsGGAAA
NR_148397.2:n.2225_2229delinsGGAAA
NR_148398.2:n.2180_2184delinsGGAAA
NR_148399.2:n.2706_2710delinsGGAAA
NR_148400.2:n.2305_2309delinsGGAAA