Canonical Allele Identifier: CA1139662210

Gene: DYNC2H1

Linked Data

• ClinVar Variation Id: 931990
• ClinVar RCV Id: RCV001199058
• dbSNP Id: rs1862217660

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103189672_103189679del , CM000673.2:g.103189672_103189679del	GRCh38
NC_000011.9:g.103060401_103060408del , CM000673.1:g.103060401_103060408del	GRCh37
NC_000011.8:g.102565611_102565618del	NCBI36
NG_016423.1:g.85242_85249del
NG_016423.2:g.85242_85249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.7293_7300del
ENST00000375735.7:c.7293_7300del
ENST00000649323.1:c.*4838_*4845del
ENST00000650373.1:c.7293_7300del
ENST00000334267.11:c.2205+55253_2205+55260del	ENSP00000334021.7:n.2205+55253_2205+55260del
ENST00000375735.6:c.7293_7300del
ENST00000398093.7:c.7293_7300del
NM_001080463.1:c.7293_7300del
NM_001377.2:c.7293_7300del
XM_006718903.2:c.7293_7300del
XM_017018291.1:c.7293_7300del
XM_017018292.1:c.6675_6682del
XM_017018293.1:c.7293_7300del
NM_001377.3:c.7293_7300del
NM_001080463.2:c.7293_7300del