Canonical Allele Identifier: CA2839987076

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522932dup , CM000671.2:g.131522932dup	GRCh38
NC_000009.11:g.134398319dup , CM000671.1:g.134398319dup	GRCh37
NC_000009.10:g.133388140dup	NCBI36
NG_008896.1:g.25031dup
NG_008896.2:g.25031dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1842dup
ENST00000404875.7:n.2544dup
ENST00000423007.6:c.2061dup
ENST00000677295.2:c.*2348dup
ENST00000678264.2:c.*2187dup
ENST00000682070.1:n.2314dup
ENST00000682813.1:n.2408-7dup
ENST00000683392.1:n.4596dup
ENST00000683712.1:n.2409dup
ENST00000683900.1:n.3904dup
ENST00000684062.1:n.2670dup
ENST00000684579.1:n.3850dup
ENST00000341012.12:c.1842dup
ENST00000372220.5:c.873dup
ENST00000372228.9:c.2070dup
ENST00000402686.8:c.2004dup
ENST00000676640.1:c.2004dup
ENST00000676803.1:c.1065dup
ENST00000676835.1:c.*1219dup
ENST00000677029.1:c.1548dup
ENST00000677099.1:c.*1714dup
ENST00000677216.1:c.1653dup
ENST00000677221.1:n.1029dup
ENST00000677295.1:c.*1226dup
ENST00000677444.1:c.1949dup
ENST00000677586.1:n.1371dup
ENST00000677626.1:c.1653dup
ENST00000677853.1:c.*1012dup
ENST00000678264.1:c.*1381dup
ENST00000678303.1:c.1914dup
ENST00000678366.1:c.*2253dup
ENST00000678546.1:c.*1949dup
ENST00000678548.1:c.*2143dup
ENST00000678626.1:n.1840dup
ENST00000678739.1:c.*2170dup
ENST00000678833.1:c.*1756dup
ENST00000679023.1:c.1842dup
ENST00000679076.1:c.1623dup
ENST00000679111.1:c.*760dup
ENST00000679189.1:c.1653dup
ENST00000341012.11:c.1842dup
ENST00000372220.4:c.867dup
ENST00000372228.7:c.2070dup
ENST00000402686.7:c.2004dup
ENST00000404875.6:c.1653dup
ENST00000423007.5:c.2004dup
ENST00000485278.5:n.2554dup
NM_001077365.1:c.2004dup
NM_001077366.1:c.1842dup
NM_001136113.1:c.2004dup
NM_001136114.1:c.1653dup
NM_007171.3:c.2070dup
XM_005272156.1:c.2070dup
XM_005272158.1:c.1908dup
XM_005272159.1:c.1719dup
XM_005272162.1:c.873dup
XM_006716932.1:c.1719dup
XM_011518140.1:c.1923dup
XM_011518141.1:c.1857dup
XM_011518142.1:c.1761dup
XM_011518143.1:c.1755dup
XM_011518145.1:c.1614dup
XM_011518147.1:c.942dup
XR_929703.1:n.2246dup
NM_001353193.1:c.2070dup
NM_001353194.1:c.1842dup
NM_001353195.1:c.1653dup
NM_001353196.1:c.1914dup
NM_001353197.1:c.1908dup
NM_001353198.1:c.1908dup
NM_001353199.1:c.1719dup
NM_001353200.1:c.1548dup
NR_148391.1:n.2054dup
NR_148392.1:n.2272dup
NR_148393.1:n.2193dup
NR_148394.1:n.1947dup
NR_148395.1:n.2345dup
NR_148396.1:n.1979dup
NR_148397.1:n.2104dup
NR_148398.1:n.2059dup
NR_148399.1:n.2585dup
NR_148400.1:n.2184dup
XM_005272162.3:c.873dup
XM_006716932.2:c.1719dup
XM_011518140.2:c.1923dup
XM_011518141.2:c.1857dup
XM_011518142.2:c.1761dup
XM_011518143.2:c.1755dup
XM_011518145.2:c.1614dup
XM_017014205.2:c.873dup
XM_024447380.1:c.873dup
XM_024447381.1:c.1179dup
XM_024447382.1:c.873dup
XR_001746160.2:n.2174dup
XR_001746162.2:n.2379dup
XR_001746164.1:n.2096dup
XR_001746166.2:n.2391dup
NM_001077365.2:c.2004dup
NM_001077366.2:c.1842dup
NM_001136113.2:c.2004dup
NM_001136114.2:c.1653dup
NM_001353193.2:c.2070dup
NM_001353194.2:c.1842dup
NM_001353195.2:c.1653dup
NM_001353196.2:c.1914dup
NM_001353197.2:c.1908dup
NM_001353198.2:c.1908dup
NM_001353199.2:c.1719dup
NM_001353200.2:c.1548dup
NM_001374689.1:c.1992dup
NM_001374690.1:c.1785dup
NM_001374691.1:c.1653dup
NM_001374692.1:c.1653dup
NM_001374693.1:c.1653dup
NM_001374695.1:c.1614dup
NM_007171.4:c.2070dup
NR_148391.2:n.2038dup
NR_148392.2:n.2256dup
NR_148393.2:n.2177dup
NR_148394.2:n.1931dup
NR_148395.2:n.2329dup
NR_148396.2:n.1963dup
NR_148397.2:n.2088dup
NR_148398.2:n.2043dup
NR_148399.2:n.2569dup
NR_148400.2:n.2168dup