Canonical Allele Identifier: CA616580364

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 2036533
• ClinVar RCV Id: RCV002881978
• dbSNP Id: rs1310742312
• gnomAD v2: 14-102505965-CTT-C
• gnomAD v3: 14-102039628-CTT-C
• gnomAD v4: 14-102039628-CTT-C
• MyVariant Identifiers: chr14:g.102505966_102505967del (hg19) ; chr14:g.102039629_102039630del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039629_102039630del , CM000676.2:g.102039629_102039630del	GRCh38
NC_000014.8:g.102505966_102505967del , CM000676.1:g.102505966_102505967del	GRCh37
NC_000014.7:g.101575719_101575720del	NCBI36
NG_008777.1:g.80102_80103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*3055-9_*3055-8del	ENSP00000506816.1:n.*3055-9_*3055-8del
ENST00000360184.10:c.11596-9_11596-8del MANE Select	ENSP00000348965.4:n.11596-9_11596-8del
ENST00000553701.1:n.347-2861_347-2860del
ENST00000556139.2:n.139_140del
ENST00000557242.1:n.329-2861_329-2860del
ENST00000557551.1:n.112-2861_112-2860del
ENST00000643437.1:n.1550-9_1550-8del
ENST00000643829.1:n.1425-9_1425-8del
ENST00000644794.1:n.1715-9_1715-8del
ENST00000644881.2:c.11596-9_11596-8del	ENSP00000495022.2:n.11596-9_11596-8del
ENST00000645039.2:c.11596-9_11596-8del	ENSP00000495220.2:n.11596-9_11596-8del
ENST00000645085.1:n.84_85del
ENST00000645149.2:c.11449-9_11449-8del	ENSP00000495944.2:n.11449-9_11449-8del
ENST00000645697.1:n.2259-9_2259-8del
ENST00000647204.2:n.837-9_837-8del
ENST00000647366.1:n.5150-9_5150-8del
ENST00000679486.1:c.11596-9_11596-8del	ENSP00000506688.1:n.11596-9_11596-8del
ENST00000679629.1:c.11596-9_11596-8del	ENSP00000505589.1:n.11596-9_11596-8del
ENST00000679720.1:c.11596-9_11596-8del	ENSP00000505938.1:n.11596-9_11596-8del
ENST00000679910.1:c.*2678-9_*2678-8del	ENSP00000506521.1:n.*2678-9_*2678-8del
ENST00000680120.1:c.11596-9_11596-8del	ENSP00000504863.1:n.11596-9_11596-8del
ENST00000680200.1:c.*855-9_*855-8del	ENSP00000506166.1:n.*855-9_*855-8del
ENST00000680313.1:c.11596-9_11596-8del	ENSP00000506208.1:n.11596-9_11596-8del
ENST00000680423.1:c.*3327-9_*3327-8del	ENSP00000505483.1:n.*3327-9_*3327-8del
ENST00000680715.1:c.11596-9_11596-8del	ENSP00000505332.1:n.11596-9_11596-8del
ENST00000681010.1:c.11596-9_11596-8del	ENSP00000505201.1:n.11596-9_11596-8del
ENST00000681066.1:c.11596-9_11596-8del	ENSP00000506344.1:n.11596-9_11596-8del
ENST00000681123.1:c.11596-9_11596-8del	ENSP00000506124.1:n.11596-9_11596-8del
ENST00000681283.1:c.*308-9_*308-8del	ENSP00000505667.1:n.*308-9_*308-8del
ENST00000681536.1:c.*4795-9_*4795-8del	ENSP00000505821.1:n.*4795-9_*4795-8del
ENST00000681574.1:c.11596-9_11596-8del	ENSP00000505523.1:n.11596-9_11596-8del
ENST00000681822.1:c.11596-9_11596-8del	ENSP00000505744.1:n.11596-9_11596-8del
ENST00000360184.8:c.11596-9_11596-8del	ENSP00000348965.4:n.11596-9_11596-8del
ENST00000556139.1:n.139_140del
NM_001376.4:c.11596-9_11596-8del	NP_001367.2:n.11596-9_11596-8del
NM_001376.5:c.11596-9_11596-8del MANE Select	NP_001367.2:n.11596-9_11596-8del