Canonical Allele Identifier: CA2697554212

Gene: DYNC1H1

Linked Data

• ClinVar Variation Id: 2695467
• ClinVar RCV Id: RCV003528534

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039223_102039225del , CM000676.2:g.102039223_102039225del	GRCh38
NC_000014.8:g.102505560_102505562del , CM000676.1:g.102505560_102505562del	GRCh37
NC_000014.7:g.101575313_101575315del	NCBI36
NG_008777.1:g.79696_79698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2888_*2890del	ENSP00000506816.1:n.*2888_*2890del
ENST00000360184.10:c.11429_11431del MANE Select	ENSP00000348965.4:p.Ser3810del
ENST00000553701.1:n.347-2450_347-2448del
ENST00000557242.1:n.329-2450_329-2448del
ENST00000557551.1:n.112-2450_112-2448del
ENST00000643437.1:n.1383_1385del
ENST00000643829.1:n.1258_1260del
ENST00000644794.1:n.1548_1550del
ENST00000644881.2:c.11429_11431del	ENSP00000495022.2:p.Ser3810del
ENST00000645039.2:c.11429_11431del	ENSP00000495220.2:p.Ser3810del
ENST00000645149.2:c.11282_11284del	ENSP00000495944.2:p.Ser3761del
ENST00000645697.1:n.2092_2094del
ENST00000647204.2:n.670_672del
ENST00000647366.1:n.4983_4985del
ENST00000679486.1:c.11429_11431del	ENSP00000506688.1:p.Ser3810del
ENST00000679629.1:c.11429_11431del	ENSP00000505589.1:p.Ser3810del
ENST00000679720.1:c.11429_11431del	ENSP00000505938.1:p.Ser3810del
ENST00000679910.1:c.*2511_*2513del	ENSP00000506521.1:n.*2511_*2513del
ENST00000680120.1:c.11429_11431del	ENSP00000504863.1:p.Ser3810del
ENST00000680200.1:c.*688_*690del	ENSP00000506166.1:n.*688_*690del
ENST00000680313.1:c.11429_11431del	ENSP00000506208.1:p.Ser3810del
ENST00000680423.1:c.*3160_*3162del	ENSP00000505483.1:n.*3160_*3162del
ENST00000680715.1:c.11429_11431del	ENSP00000505332.1:p.Ser3810del
ENST00000681010.1:c.11429_11431del	ENSP00000505201.1:p.Ser3810del
ENST00000681066.1:c.11429_11431del	ENSP00000506344.1:p.Ser3810del
ENST00000681123.1:c.11429_11431del	ENSP00000506124.1:p.Ser3810del
ENST00000681283.1:c.*141_*143del	ENSP00000505667.1:n.*141_*143del
ENST00000681536.1:c.*4628_*4630del	ENSP00000505821.1:n.*4628_*4630del
ENST00000681574.1:c.11429_11431del	ENSP00000505523.1:p.Ser3810del
ENST00000681822.1:c.11429_11431del	ENSP00000505744.1:p.Ser3810del
ENST00000360184.8:c.11429_11431del	ENSP00000348965.4:p.Ser3810del
NM_001376.4:c.11429_11431del	NP_001367.2:p.Ser3810del
NM_001376.5:c.11429_11431del MANE Select	NP_001367.2:p.Ser3810del