Canonical Allele Identifier: CA7353596

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 1564321
• ClinVar RCV Id: RCV002216599
• dbSNP Id: rs768638049
• ExAC: 14:102505608 TGCAGAGACTGGCGGGCCCCGCACAGTAGCTCCTTGGCCGC / T
• gnomAD v2: 14-102505608-TGCAGAGACTGGCGGGCCCCGCACAGTAGCTCCTTGGCCGC-T
• gnomAD v3: 14-102039271-TGCAGAGACTGGCGGGCCCCGCACAGTAGCTCCTTGGCCGC-T
• gnomAD v4: 14-102039271-TGCAGAGACTGGCGGGCCCCGCACAGTAGCTCCTTGGCCGC-T
• MyVariant Identifiers: chr14:g.102505609_102505648del (hg19) ; chr14:g.102039272_102039311del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039272_102039311del , CM000676.2:g.102039272_102039311del	GRCh38
NC_000014.8:g.102505609_102505648del , CM000676.1:g.102505609_102505648del	GRCh37
NC_000014.7:g.101575362_101575401del	NCBI36
NG_008777.1:g.79745_79784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2919+18_*2919+57del	ENSP00000506816.1:n.*2919+18_*2919+57del
ENST00000360184.10:c.11460+18_11460+57del MANE Select	ENSP00000348965.4:n.11460+18_11460+57del
ENST00000553701.1:n.347-2542_347-2503del
ENST00000557242.1:n.329-2542_329-2503del
ENST00000557551.1:n.112-2542_112-2503del
ENST00000643437.1:n.1414+18_1414+57del
ENST00000643829.1:n.1289+18_1289+57del
ENST00000644794.1:n.1579+18_1579+57del
ENST00000644881.2:c.11460+18_11460+57del	ENSP00000495022.2:n.11460+18_11460+57del
ENST00000645039.2:c.11460+18_11460+57del	ENSP00000495220.2:n.11460+18_11460+57del
ENST00000645149.2:c.11313+18_11313+57del	ENSP00000495944.2:n.11313+18_11313+57del
ENST00000645697.1:n.2123+18_2123+57del
ENST00000647204.2:n.701+18_701+57del
ENST00000647366.1:n.5014+18_5014+57del
ENST00000679486.1:c.11460+18_11460+57del	ENSP00000506688.1:n.11460+18_11460+57del
ENST00000679629.1:c.11460+18_11460+57del	ENSP00000505589.1:n.11460+18_11460+57del
ENST00000679720.1:c.11460+18_11460+57del	ENSP00000505938.1:n.11460+18_11460+57del
ENST00000679910.1:c.*2542+18_*2542+57del	ENSP00000506521.1:n.*2542+18_*2542+57del
ENST00000680120.1:c.11460+18_11460+57del	ENSP00000504863.1:n.11460+18_11460+57del
ENST00000680200.1:c.*719+18_*719+57del	ENSP00000506166.1:n.*719+18_*719+57del
ENST00000680313.1:c.11460+18_11460+57del	ENSP00000506208.1:n.11460+18_11460+57del
ENST00000680423.1:c.*3191+18_*3191+57del	ENSP00000505483.1:n.*3191+18_*3191+57del
ENST00000680715.1:c.11460+18_11460+57del	ENSP00000505332.1:n.11460+18_11460+57del
ENST00000681010.1:c.11460+18_11460+57del	ENSP00000505201.1:n.11460+18_11460+57del
ENST00000681066.1:c.11460+18_11460+57del	ENSP00000506344.1:n.11460+18_11460+57del
ENST00000681123.1:c.11460+18_11460+57del	ENSP00000506124.1:n.11460+18_11460+57del
ENST00000681283.1:c.*172+18_*172+57del	ENSP00000505667.1:n.*172+18_*172+57del
ENST00000681536.1:c.*4659+18_*4659+57del	ENSP00000505821.1:n.*4659+18_*4659+57del
ENST00000681574.1:c.11460+18_11460+57del	ENSP00000505523.1:n.11460+18_11460+57del
ENST00000681822.1:c.11460+18_11460+57del	ENSP00000505744.1:n.11460+18_11460+57del
ENST00000360184.8:c.11460+18_11460+57del	ENSP00000348965.4:n.11460+18_11460+57del
NM_001376.4:c.11460+18_11460+57del	NP_001367.2:n.11460+18_11460+57del
NM_001376.5:c.11460+18_11460+57del MANE Select	NP_001367.2:n.11460+18_11460+57del