Canonical Allele Identifier: CA7354258
Community Standard Title: NM_001376.5(DYNC1H1):c.13515+19dup
Gene: DYNC1H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102049601dup , CM000676.2:g.102049601dup GRCh38
NC_000014.8:g.102515938dup , CM000676.1:g.102515938dup GRCh37
NC_000014.7:g.101585691dup NCBI36
NG_008777.1:g.90074dup

Transcript Alleles

HGVS Amino-acid Change
NM_001376.5:c.13515+19dup MANE Select NP_001367.2:n.13515+19dup
ENST00000360184.10:c.13515+19dup MANE Select ENSP00000348965.4:n.13515+19dup
NM_001376.4:c.13515+19dup NP_001367.2:n.13515+19dup
ENST00000360184.8:c.13515+19dup ENSP00000348965.4:n.13515+19dup
ENST00000553701.1:n.346+844dup
ENST00000555062.1:n.584dup
ENST00000555062.2:n.607dup
ENST00000556229.2:n.1678+19dup
ENST00000557242.1:n.328+2926dup
ENST00000643437.1:n.4239+19dup
ENST00000643591.1:n.2078+19dup
ENST00000643729.1:n.1937dup
ENST00000643829.1:n.3471+19dup
ENST00000644239.2:n.1651+19dup
ENST00000644881.2:c.13515+19dup ENSP00000495022.2:n.13515+19dup
ENST00000645039.2:c.*1366+19dup ENSP00000495220.2:n.*1366+19dup
ENST00000645085.1:n.1761+19dup
ENST00000645149.2:c.13368+19dup ENSP00000495944.2:n.13368+19dup
ENST00000645978.2:n.596dup
ENST00000647143.1:n.1920+19dup
ENST00000647204.2:n.3621+19dup
ENST00000647366.1:n.7069+19dup
ENST00000679720.1:c.13515+19dup ENSP00000505938.1:n.13515+19dup
ENST00000679910.1:c.*4597+19dup ENSP00000506521.1:n.*4597+19dup
ENST00000680120.1:c.*274+19dup ENSP00000504863.1:n.*274+19dup
ENST00000680178.1:n.1863dup
ENST00000680200.1:c.*2774+19dup ENSP00000506166.1:n.*2774+19dup
ENST00000680313.1:c.*261+19dup ENSP00000506208.1:n.*261+19dup
ENST00000680423.1:c.*5246+19dup ENSP00000505483.1:n.*5246+19dup
ENST00000680715.1:c.*805+19dup ENSP00000505332.1:n.*805+19dup
ENST00000681066.1:c.*1538+19dup ENSP00000506344.1:n.*1538+19dup
ENST00000681283.1:c.*2227+19dup ENSP00000505667.1:n.*2227+19dup
ENST00000681536.1:c.*6714+19dup ENSP00000505821.1:n.*6714+19dup
ENST00000681574.1:c.13515+19dup ENSP00000505523.1:n.13515+19dup
ENST00000681822.1:c.13534dup ENSP00000505744.1:p.Ser4512LysfsTer?
ENST00000684561.1:c.*4974+19dup ENSP00000506816.1:n.*4974+19dup