Canonical Allele Identifier: CA2159623000
Gene: DYNC1H1 HGNC NCBI

Linked Data

dbSNP Id: rs2048620454

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102039613_102039615del , CM000676.2:g.102039613_102039615del GRCh38
NC_000014.8:g.102505950_102505952del , CM000676.1:g.102505950_102505952del GRCh37
NC_000014.7:g.101575703_101575705del NCBI36
NG_008777.1:g.80086_80088del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684561.1:c.*3055-25_*3055-23del ENSP00000506816.1:n.*3055-25_*3055-23del
ENST00000360184.10:c.11596-25_11596-23del MANE Select ENSP00000348965.4:n.11596-25_11596-23del
ENST00000553701.1:n.347-2842_347-2840del
ENST00000556139.2:n.123_125del
ENST00000557242.1:n.329-2842_329-2840del
ENST00000557551.1:n.112-2842_112-2840del
ENST00000643437.1:n.1550-25_1550-23del
ENST00000643829.1:n.1425-25_1425-23del
ENST00000644794.1:n.1715-25_1715-23del
ENST00000644881.2:c.11596-25_11596-23del ENSP00000495022.2:n.11596-25_11596-23del
ENST00000645039.2:c.11596-25_11596-23del ENSP00000495220.2:n.11596-25_11596-23del
ENST00000645085.1:n.68_70del
ENST00000645149.2:c.11449-25_11449-23del ENSP00000495944.2:n.11449-25_11449-23del
ENST00000645697.1:n.2259-25_2259-23del
ENST00000647204.2:n.837-25_837-23del
ENST00000647366.1:n.5150-25_5150-23del
ENST00000679486.1:c.11596-25_11596-23del ENSP00000506688.1:n.11596-25_11596-23del
ENST00000679629.1:c.11596-25_11596-23del ENSP00000505589.1:n.11596-25_11596-23del
ENST00000679720.1:c.11596-25_11596-23del ENSP00000505938.1:n.11596-25_11596-23del
ENST00000679910.1:c.*2678-25_*2678-23del ENSP00000506521.1:n.*2678-25_*2678-23del
ENST00000680120.1:c.11596-25_11596-23del ENSP00000504863.1:n.11596-25_11596-23del
ENST00000680200.1:c.*855-25_*855-23del ENSP00000506166.1:n.*855-25_*855-23del
ENST00000680313.1:c.11596-25_11596-23del ENSP00000506208.1:n.11596-25_11596-23del
ENST00000680423.1:c.*3327-25_*3327-23del ENSP00000505483.1:n.*3327-25_*3327-23del
ENST00000680715.1:c.11596-25_11596-23del ENSP00000505332.1:n.11596-25_11596-23del
ENST00000681010.1:c.11596-25_11596-23del ENSP00000505201.1:n.11596-25_11596-23del
ENST00000681066.1:c.11596-25_11596-23del ENSP00000506344.1:n.11596-25_11596-23del
ENST00000681123.1:c.11596-25_11596-23del ENSP00000506124.1:n.11596-25_11596-23del
ENST00000681283.1:c.*308-25_*308-23del ENSP00000505667.1:n.*308-25_*308-23del
ENST00000681536.1:c.*4795-25_*4795-23del ENSP00000505821.1:n.*4795-25_*4795-23del
ENST00000681574.1:c.11596-25_11596-23del ENSP00000505523.1:n.11596-25_11596-23del
ENST00000681822.1:c.11596-25_11596-23del ENSP00000505744.1:n.11596-25_11596-23del
ENST00000360184.8:c.11596-25_11596-23del ENSP00000348965.4:n.11596-25_11596-23del
ENST00000556139.1:n.123_125del
NM_001376.4:c.11596-25_11596-23del NP_001367.2:n.11596-25_11596-23del
NM_001376.5:c.11596-25_11596-23del MANE Select NP_001367.2:n.11596-25_11596-23del