Canonical Allele Identifier: CA16603278
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522931_131522933del , CM000671.2:g.131522931_131522933del GRCh38
NC_000009.11:g.134398318_134398320del , CM000671.1:g.134398318_134398320del GRCh37
NC_000009.10:g.133388139_133388141del NCBI36
NG_008896.1:g.25030_25032del
NG_008896.2:g.25030_25032del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1842-1_1843del
ENST00000404875.7:n.2544-1_2545del
ENST00000423007.6:c.2061-1_2062del
ENST00000677295.2:c.*2348-1_*2349del
ENST00000678264.2:c.*2187-1_*2188del
ENST00000682070.1:n.2314-1_2315del
ENST00000682813.1:n.2408-8_2408-6del
ENST00000683392.1:n.4596-1_4597del
ENST00000683712.1:n.2409-1_2410del
ENST00000683900.1:n.3904-1_3905del
ENST00000684062.1:n.2670-1_2671del
ENST00000684579.1:n.3850-1_3851del
ENST00000341012.12:c.1842-1_1843del
ENST00000372220.5:c.873-1_874del
ENST00000372228.9:c.2070-1_2071del
ENST00000402686.8:c.2004-1_2005del
ENST00000676640.1:c.2004-1_2005del
ENST00000676803.1:c.1065-1_1066del
ENST00000676835.1:c.*1219-1_*1220del
ENST00000677029.1:c.1548-1_1549del
ENST00000677099.1:c.*1714-1_*1715del
ENST00000677216.1:c.1653-1_1654del
ENST00000677221.1:n.1029-1_1030del
ENST00000677295.1:c.*1226-1_*1227del
ENST00000677444.1:c.1949-1_1950del
ENST00000677586.1:n.1371-1_1372del
ENST00000677626.1:c.1653-1_1654del
ENST00000677853.1:c.*1012-1_*1013del
ENST00000678264.1:c.*1381-1_*1382del
ENST00000678303.1:c.1914-1_1915del
ENST00000678366.1:c.*2253-1_*2254del
ENST00000678546.1:c.*1949-1_*1950del
ENST00000678548.1:c.*2143-1_*2144del
ENST00000678626.1:n.1840-1_1841del
ENST00000678739.1:c.*2170-1_*2171del
ENST00000678833.1:c.*1756-1_*1757del
ENST00000679023.1:c.1842-1_1843del
ENST00000679076.1:c.1623-1_1624del
ENST00000679111.1:c.*760-1_*761del
ENST00000679189.1:c.1653-1_1654del
ENST00000341012.11:c.1842-1_1843del
ENST00000372220.4:c.867-1_868del
ENST00000372228.7:c.2070-1_2071del
ENST00000402686.7:c.2004-1_2005del
ENST00000404875.6:c.1653-1_1654del
ENST00000423007.5:c.2004-1_2005del
ENST00000485278.5:n.2554-1_2555del
NM_001077365.1:c.2004-1_2005del
NM_001077366.1:c.1842-1_1843del
NM_001136113.1:c.2004-1_2005del
NM_001136114.1:c.1653-1_1654del
NM_007171.3:c.2070-1_2071del
XM_005272156.1:c.2070-1_2071del
XM_005272158.1:c.1908-1_1909del
XM_005272159.1:c.1719-1_1720del
XM_005272162.1:c.873-1_874del
XM_006716932.1:c.1719-1_1720del
XM_011518140.1:c.1923-1_1924del
XM_011518141.1:c.1857-1_1858del
XM_011518142.1:c.1761-1_1762del
XM_011518143.1:c.1755-1_1756del
XM_011518145.1:c.1614-1_1615del
XM_011518147.1:c.942-1_943del
XR_929703.1:n.2246-1_2247del
NM_001353193.1:c.2070-1_2071del
NM_001353194.1:c.1842-1_1843del
NM_001353195.1:c.1653-1_1654del
NM_001353196.1:c.1914-1_1915del
NM_001353197.1:c.1908-1_1909del
NM_001353198.1:c.1908-1_1909del
NM_001353199.1:c.1719-1_1720del
NM_001353200.1:c.1548-1_1549del
NR_148391.1:n.2054-1_2055del
NR_148392.1:n.2272-1_2273del
NR_148393.1:n.2193-1_2194del
NR_148394.1:n.1947-1_1948del
NR_148395.1:n.2345-1_2346del
NR_148396.1:n.1979-1_1980del
NR_148397.1:n.2104-1_2105del
NR_148398.1:n.2059-1_2060del
NR_148399.1:n.2585-1_2586del
NR_148400.1:n.2184-1_2185del
XM_005272162.3:c.873-1_874del
XM_006716932.2:c.1719-1_1720del
XM_011518140.2:c.1923-1_1924del
XM_011518141.2:c.1857-1_1858del
XM_011518142.2:c.1761-1_1762del
XM_011518143.2:c.1755-1_1756del
XM_011518145.2:c.1614-1_1615del
XM_017014205.2:c.873-1_874del
XM_024447380.1:c.873-1_874del
XM_024447381.1:c.1179-1_1180del
XM_024447382.1:c.873-1_874del
XR_001746160.2:n.2174-1_2175del
XR_001746162.2:n.2379-1_2380del
XR_001746164.1:n.2096-1_2097del
XR_001746166.2:n.2391-1_2392del
NM_001077365.2:c.2004-1_2005del
NM_001077366.2:c.1842-1_1843del
NM_001136113.2:c.2004-1_2005del
NM_001136114.2:c.1653-1_1654del
NM_001353193.2:c.2070-1_2071del
NM_001353194.2:c.1842-1_1843del
NM_001353195.2:c.1653-1_1654del
NM_001353196.2:c.1914-1_1915del
NM_001353197.2:c.1908-1_1909del
NM_001353198.2:c.1908-1_1909del
NM_001353199.2:c.1719-1_1720del
NM_001353200.2:c.1548-1_1549del
NM_001374689.1:c.1992-1_1993del
NM_001374690.1:c.1785-1_1786del
NM_001374691.1:c.1653-1_1654del
NM_001374692.1:c.1653-1_1654del
NM_001374693.1:c.1653-1_1654del
NM_001374695.1:c.1614-1_1615del
NM_007171.4:c.2070-1_2071del
NR_148391.2:n.2038-1_2039del
NR_148392.2:n.2256-1_2257del
NR_148393.2:n.2177-1_2178del
NR_148394.2:n.1931-1_1932del
NR_148395.2:n.2329-1_2330del
NR_148396.2:n.1963-1_1964del
NR_148397.2:n.2088-1_2089del
NR_148398.2:n.2043-1_2044del
NR_148399.2:n.2569-1_2570del
NR_148400.2:n.2168-1_2169del