Canonical Allele Identifier: CA2582341769

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 2582067
• ClinVar RCV Id: RCV003332773

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.101986469del , CM000676.2:g.101986469del	GRCh38
NC_000014.8:g.102452806del , CM000676.1:g.102452806del	GRCh37
NC_000014.7:g.101522559del	NCBI36
NG_008777.1:g.26942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.2244del	ENSP00000506816.1:p.Glu749LysfsTer17
ENST00000360184.10:c.2244del MANE Select	ENSP00000348965.4:p.Glu749LysfsTer17
ENST00000643508.2:c.2244del	ENSP00000495528.2:p.Glu749LysfsTer17
ENST00000643684.1:n.2363del
ENST00000643958.2:c.2244del	ENSP00000505734.1:p.Glu749LysfsTer17
ENST00000644881.2:c.2244del	ENSP00000495022.2:p.Glu749LysfsTer17
ENST00000645039.2:c.2244del	ENSP00000495220.2:p.Glu749LysfsTer17
ENST00000645114.2:c.2244del	ENSP00000495884.2:p.Glu749LysfsTer17
ENST00000645149.2:c.2244del	ENSP00000495944.2:p.Glu749LysfsTer17
ENST00000679486.1:c.2244del	ENSP00000506688.1:p.Glu749LysfsTer17
ENST00000679629.1:c.2244del	ENSP00000505589.1:p.Glu749LysfsTer17
ENST00000679720.1:c.2244del	ENSP00000505938.1:p.Glu749LysfsTer17
ENST00000679910.1:c.2244del	ENSP00000506521.1:p.Glu749LysfsTer17
ENST00000680001.1:c.*1753del	ENSP00000506351.1:n.*1753del
ENST00000680120.1:c.2244del	ENSP00000504863.1:p.Glu749LysfsTer17
ENST00000680137.1:c.2244del	ENSP00000505294.1:p.Glu749LysfsTer17
ENST00000680200.1:c.2244del	ENSP00000506166.1:p.Glu749LysfsTer17
ENST00000680313.1:c.2244del	ENSP00000506208.1:p.Glu749LysfsTer17
ENST00000680423.1:c.2244del	ENSP00000505483.1:p.Glu749LysfsTer17
ENST00000680715.1:c.2244del	ENSP00000505332.1:p.Glu749LysfsTer17
ENST00000680808.1:c.2244del	ENSP00000506446.1:p.Glu749LysfsTer17
ENST00000680874.1:c.2244del	ENSP00000504911.1:p.Glu749LysfsTer17
ENST00000681010.1:c.2244del	ENSP00000505201.1:p.Glu749LysfsTer17
ENST00000681066.1:c.2244del	ENSP00000506344.1:p.Glu749LysfsTer17
ENST00000681123.1:c.2244del	ENSP00000506124.1:p.Glu749LysfsTer17
ENST00000681283.1:c.2244del	ENSP00000505667.1:p.Glu749LysfsTer17
ENST00000681311.1:c.2244del	ENSP00000505519.1:p.Glu749LysfsTer17
ENST00000681321.1:n.56del
ENST00000681536.1:c.2244del	ENSP00000505821.1:p.Glu749LysfsTer17
ENST00000681574.1:c.2244del	ENSP00000505523.1:p.Glu749LysfsTer17
ENST00000681668.1:c.2244del	ENSP00000506420.1:p.Glu749LysfsTer17
ENST00000681751.1:c.*1975del	ENSP00000506637.1:n.*1975del
ENST00000681822.1:c.2244del	ENSP00000505744.1:p.Glu749LysfsTer17
ENST00000681859.1:c.2244del	ENSP00000505467.1:p.Glu749LysfsTer17
ENST00000360184.8:c.2244del	ENSP00000348965.4:p.Glu749LysfsTer17
NM_001376.4:c.2244del	NP_001367.2:p.Glu749LysfsTer17
NM_001376.5:c.2244del MANE Select	NP_001367.2:p.Glu749LysfsTer17