Canonical Allele Identifier: CA7353604

Gene: DYNC1H1

Linked Data

• dbSNP Id: rs761599934
• ExAC: 14:102505625 CCCGCACAGTAGCTCCTTGG / C
• gnomAD v2: 14-102505625-CCCGCACAGTAGCTCCTTGG-C
• gnomAD v3: 14-102039288-CCCGCACAGTAGCTCCTTGG-C
• gnomAD v4: 14-102039288-CCCGCACAGTAGCTCCTTGG-C
• MyVariant Identifiers: chr14:g.102505626_102505644del (hg19) ; chr14:g.102039289_102039307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039297_102039315del , CM000676.2:g.102039297_102039315del	GRCh38
NC_000014.8:g.102505634_102505652del , CM000676.1:g.102505634_102505652del	GRCh37
NC_000014.7:g.101575387_101575405del	NCBI36
NG_008777.1:g.79770_79788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2919+43_*2919+61del	ENSP00000506816.1:n.*2919+43_*2919+61del
ENST00000360184.10:c.11460+43_11460+61del MANE Select	ENSP00000348965.4:n.11460+43_11460+61del
ENST00000553701.1:n.347-2538_347-2520del
ENST00000557242.1:n.329-2538_329-2520del
ENST00000557551.1:n.112-2538_112-2520del
ENST00000643437.1:n.1414+43_1414+61del
ENST00000643829.1:n.1289+43_1289+61del
ENST00000644794.1:n.1579+43_1579+61del
ENST00000644881.2:c.11460+43_11460+61del	ENSP00000495022.2:n.11460+43_11460+61del
ENST00000645039.2:c.11460+43_11460+61del	ENSP00000495220.2:n.11460+43_11460+61del
ENST00000645149.2:c.11313+43_11313+61del	ENSP00000495944.2:n.11313+43_11313+61del
ENST00000645697.1:n.2123+43_2123+61del
ENST00000647204.2:n.701+43_701+61del
ENST00000647366.1:n.5014+43_5014+61del
ENST00000679486.1:c.11460+43_11460+61del	ENSP00000506688.1:n.11460+43_11460+61del
ENST00000679629.1:c.11460+43_11460+61del	ENSP00000505589.1:n.11460+43_11460+61del
ENST00000679720.1:c.11460+43_11460+61del	ENSP00000505938.1:n.11460+43_11460+61del
ENST00000679910.1:c.*2542+43_*2542+61del	ENSP00000506521.1:n.*2542+43_*2542+61del
ENST00000680120.1:c.11460+43_11460+61del	ENSP00000504863.1:n.11460+43_11460+61del
ENST00000680200.1:c.*719+43_*719+61del	ENSP00000506166.1:n.*719+43_*719+61del
ENST00000680313.1:c.11460+43_11460+61del	ENSP00000506208.1:n.11460+43_11460+61del
ENST00000680423.1:c.*3191+43_*3191+61del	ENSP00000505483.1:n.*3191+43_*3191+61del
ENST00000680715.1:c.11460+43_11460+61del	ENSP00000505332.1:n.11460+43_11460+61del
ENST00000681010.1:c.11460+43_11460+61del	ENSP00000505201.1:n.11460+43_11460+61del
ENST00000681066.1:c.11460+43_11460+61del	ENSP00000506344.1:n.11460+43_11460+61del
ENST00000681123.1:c.11460+43_11460+61del	ENSP00000506124.1:n.11460+43_11460+61del
ENST00000681283.1:c.*172+43_*172+61del	ENSP00000505667.1:n.*172+43_*172+61del
ENST00000681536.1:c.*4659+43_*4659+61del	ENSP00000505821.1:n.*4659+43_*4659+61del
ENST00000681574.1:c.11460+43_11460+61del	ENSP00000505523.1:n.11460+43_11460+61del
ENST00000681822.1:c.11460+43_11460+61del	ENSP00000505744.1:n.11460+43_11460+61del
ENST00000360184.8:c.11460+43_11460+61del	ENSP00000348965.4:n.11460+43_11460+61del
NM_001376.4:c.11460+43_11460+61del	NP_001367.2:n.11460+43_11460+61del
NM_001376.5:c.11460+43_11460+61del MANE Select	NP_001367.2:n.11460+43_11460+61del