Canonical Allele Identifier: CA1880525589
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 2069024
ClinVar RCV Id: RCV002954447
dbSNP Id: rs1841656668
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945993_128946002del , CM000671.2:g.128945993_128946002del GRCh38
NC_000009.11:g.131708272_131708281del , CM000671.1:g.131708272_131708281del GRCh37
NC_000009.10:g.130748093_130748102del NCBI36
NG_017009.1:g.6732_6741del , LRG_744:g.6732_6741del
NG_033111.1:g.3301_3310del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1302_1311del MANE Select ENSP00000361667.3:p.Ala435SerfsTer?
ENST00000372586.3:c.1302_1311del ENSP00000361667.3:p.Ala435SerfsTer?
ENST00000482796.1:c.39-3196_39-3187del ENSP00000417556.2:n.39-3196_39-3187del
NM_014908.3:c.1302_1311del , LRG_744t1:c.1302_1311del NP_055723.1:p.Ala435SerfsTer?
NM_014908.4:c.1302_1311del MANE Select NP_055723.1:p.Ala435SerfsTer?
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