Canonical Allele Identifier: CA860309069
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 1036278
ClinVar RCV Id: RCV001339266
dbSNP Id: rs1223257193

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946084_128946085del , CM000671.2:g.128946084_128946085del GRCh38
NC_000009.11:g.131708363_131708364del , CM000671.1:g.131708363_131708364del GRCh37
NC_000009.10:g.130748184_130748185del NCBI36
NG_017009.1:g.6654_6655del , LRG_744:g.6654_6655del
NG_033111.1:g.3392_3393del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1224_1225del MANE Select ENSP00000361667.3:p.Ile409LeufsTer22
ENST00000372586.3:c.1224_1225del ENSP00000361667.3:p.Ile409LeufsTer22
ENST00000482796.1:c.39-3105_39-3104del ENSP00000417556.2:n.39-3105_39-3104del
NM_014908.3:c.1224_1225del , LRG_744t1:c.1224_1225del NP_055723.1:p.Ile409LeufsTer22
NM_014908.4:c.1224_1225del MANE Select NP_055723.1:p.Ile409LeufsTer22