Canonical Allele Identifier: CA1881759857
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522930_131522933delinsAGGT , CM000671.2:g.131522930_131522933delinsAGGT GRCh38
NC_000009.11:g.134398317_134398320delinsAGGT , CM000671.1:g.134398317_134398320delinsAGGT GRCh37
NC_000009.10:g.133388138_133388141delinsAGGT NCBI36
NG_008896.1:g.25029_25032delinsAGGT
NG_008896.2:g.25029_25032delinsAGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1842-2_1843delinsAGGT
ENST00000404875.7:n.2544-2_2545delinsAGGT
ENST00000423007.6:c.2061-2_2062delinsAGGT
ENST00000677295.2:c.*2348-2_*2349delinsAGGT
ENST00000678264.2:c.*2187-2_*2188delinsAGGT
ENST00000682070.1:n.2314-2_2315delinsAGGT
ENST00000682813.1:n.2408-9_2408-6delinsAGGT
ENST00000683392.1:n.4596-2_4597delinsAGGT
ENST00000683712.1:n.2409-2_2410delinsAGGT
ENST00000683900.1:n.3904-2_3905delinsAGGT
ENST00000684062.1:n.2670-2_2671delinsAGGT
ENST00000684579.1:n.3850-2_3851delinsAGGT
ENST00000341012.12:c.1842-2_1843delinsAGGT
ENST00000372220.5:c.873-2_874delinsAGGT
ENST00000372228.9:c.2070-2_2071delinsAGGT
ENST00000402686.8:c.2004-2_2005delinsAGGT
ENST00000676640.1:c.2004-2_2005delinsAGGT
ENST00000676803.1:c.1065-2_1066delinsAGGT
ENST00000676835.1:c.*1219-2_*1220delinsAGGT
ENST00000677029.1:c.1548-2_1549delinsAGGT
ENST00000677099.1:c.*1714-2_*1715delinsAGGT
ENST00000677216.1:c.1653-2_1654delinsAGGT
ENST00000677221.1:n.1029-2_1030delinsAGGT
ENST00000677295.1:c.*1226-2_*1227delinsAGGT
ENST00000677444.1:c.1949-2_1950delinsAGGT
ENST00000677586.1:n.1371-2_1372delinsAGGT
ENST00000677626.1:c.1653-2_1654delinsAGGT
ENST00000677853.1:c.*1012-2_*1013delinsAGGT
ENST00000678264.1:c.*1381-2_*1382delinsAGGT
ENST00000678303.1:c.1914-2_1915delinsAGGT
ENST00000678366.1:c.*2253-2_*2254delinsAGGT
ENST00000678546.1:c.*1949-2_*1950delinsAGGT
ENST00000678548.1:c.*2143-2_*2144delinsAGGT
ENST00000678626.1:n.1840-2_1841delinsAGGT
ENST00000678739.1:c.*2170-2_*2171delinsAGGT
ENST00000678833.1:c.*1756-2_*1757delinsAGGT
ENST00000679023.1:c.1842-2_1843delinsAGGT
ENST00000679076.1:c.1623-2_1624delinsAGGT
ENST00000679111.1:c.*760-2_*761delinsAGGT
ENST00000679189.1:c.1653-2_1654delinsAGGT
ENST00000341012.11:c.1842-2_1843delinsAGGT
ENST00000372220.4:c.867-2_868delinsAGGT
ENST00000372228.7:c.2070-2_2071delinsAGGT
ENST00000402686.7:c.2004-2_2005delinsAGGT
ENST00000404875.6:c.1653-2_1654delinsAGGT
ENST00000423007.5:c.2004-2_2005delinsAGGT
ENST00000485278.5:n.2554-2_2555delinsAGGT
NM_001077365.1:c.2004-2_2005delinsAGGT
NM_001077366.1:c.1842-2_1843delinsAGGT
NM_001136113.1:c.2004-2_2005delinsAGGT
NM_001136114.1:c.1653-2_1654delinsAGGT
NM_007171.3:c.2070-2_2071delinsAGGT
XM_005272156.1:c.2070-2_2071delinsAGGT
XM_005272158.1:c.1908-2_1909delinsAGGT
XM_005272159.1:c.1719-2_1720delinsAGGT
XM_005272162.1:c.873-2_874delinsAGGT
XM_006716932.1:c.1719-2_1720delinsAGGT
XM_011518140.1:c.1923-2_1924delinsAGGT
XM_011518141.1:c.1857-2_1858delinsAGGT
XM_011518142.1:c.1761-2_1762delinsAGGT
XM_011518143.1:c.1755-2_1756delinsAGGT
XM_011518145.1:c.1614-2_1615delinsAGGT
XM_011518147.1:c.942-2_943delinsAGGT
XR_929703.1:n.2246-2_2247delinsAGGT
NM_001353193.1:c.2070-2_2071delinsAGGT
NM_001353194.1:c.1842-2_1843delinsAGGT
NM_001353195.1:c.1653-2_1654delinsAGGT
NM_001353196.1:c.1914-2_1915delinsAGGT
NM_001353197.1:c.1908-2_1909delinsAGGT
NM_001353198.1:c.1908-2_1909delinsAGGT
NM_001353199.1:c.1719-2_1720delinsAGGT
NM_001353200.1:c.1548-2_1549delinsAGGT
NR_148391.1:n.2054-2_2055delinsAGGT
NR_148392.1:n.2272-2_2273delinsAGGT
NR_148393.1:n.2193-2_2194delinsAGGT
NR_148394.1:n.1947-2_1948delinsAGGT
NR_148395.1:n.2345-2_2346delinsAGGT
NR_148396.1:n.1979-2_1980delinsAGGT
NR_148397.1:n.2104-2_2105delinsAGGT
NR_148398.1:n.2059-2_2060delinsAGGT
NR_148399.1:n.2585-2_2586delinsAGGT
NR_148400.1:n.2184-2_2185delinsAGGT
XM_005272162.3:c.873-2_874delinsAGGT
XM_006716932.2:c.1719-2_1720delinsAGGT
XM_011518140.2:c.1923-2_1924delinsAGGT
XM_011518141.2:c.1857-2_1858delinsAGGT
XM_011518142.2:c.1761-2_1762delinsAGGT
XM_011518143.2:c.1755-2_1756delinsAGGT
XM_011518145.2:c.1614-2_1615delinsAGGT
XM_017014205.2:c.873-2_874delinsAGGT
XM_024447380.1:c.873-2_874delinsAGGT
XM_024447381.1:c.1179-2_1180delinsAGGT
XM_024447382.1:c.873-2_874delinsAGGT
XR_001746160.2:n.2174-2_2175delinsAGGT
XR_001746162.2:n.2379-2_2380delinsAGGT
XR_001746164.1:n.2096-2_2097delinsAGGT
XR_001746166.2:n.2391-2_2392delinsAGGT
NM_001077365.2:c.2004-2_2005delinsAGGT
NM_001077366.2:c.1842-2_1843delinsAGGT
NM_001136113.2:c.2004-2_2005delinsAGGT
NM_001136114.2:c.1653-2_1654delinsAGGT
NM_001353193.2:c.2070-2_2071delinsAGGT
NM_001353194.2:c.1842-2_1843delinsAGGT
NM_001353195.2:c.1653-2_1654delinsAGGT
NM_001353196.2:c.1914-2_1915delinsAGGT
NM_001353197.2:c.1908-2_1909delinsAGGT
NM_001353198.2:c.1908-2_1909delinsAGGT
NM_001353199.2:c.1719-2_1720delinsAGGT
NM_001353200.2:c.1548-2_1549delinsAGGT
NM_001374689.1:c.1992-2_1993delinsAGGT
NM_001374690.1:c.1785-2_1786delinsAGGT
NM_001374691.1:c.1653-2_1654delinsAGGT
NM_001374692.1:c.1653-2_1654delinsAGGT
NM_001374693.1:c.1653-2_1654delinsAGGT
NM_001374695.1:c.1614-2_1615delinsAGGT
NM_007171.4:c.2070-2_2071delinsAGGT
NR_148391.2:n.2038-2_2039delinsAGGT
NR_148392.2:n.2256-2_2257delinsAGGT
NR_148393.2:n.2177-2_2178delinsAGGT
NR_148394.2:n.1931-2_1932delinsAGGT
NR_148395.2:n.2329-2_2330delinsAGGT
NR_148396.2:n.1963-2_1964delinsAGGT
NR_148397.2:n.2088-2_2089delinsAGGT
NR_148398.2:n.2043-2_2044delinsAGGT
NR_148399.2:n.2569-2_2570delinsAGGT
NR_148400.2:n.2168-2_2169delinsAGGT