Canonical Allele Identifier: CA1139661249
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 942457
ClinVar RCV Id: RCV001212448
dbSNP Id: rs1841658916
gnomAD v4: 9-128946057-GAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946059_128946060del , CM000671.2:g.128946059_128946060del GRCh38
NC_000009.11:g.131708338_131708339del , CM000671.1:g.131708338_131708339del GRCh37
NC_000009.10:g.130748159_130748160del NCBI36
NG_017009.1:g.6675_6676del , LRG_744:g.6675_6676del
NG_033111.1:g.3367_3368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1245_1246del MANE Select ENSP00000361667.3:p.Met415IlefsTer16
ENST00000372586.3:c.1245_1246del ENSP00000361667.3:p.Met415IlefsTer16
ENST00000482796.1:c.39-3130_39-3129del ENSP00000417556.2:n.39-3130_39-3129del
NM_014908.3:c.1245_1246del , LRG_744t1:c.1245_1246del NP_055723.1:p.Met415IlefsTer16
NM_014908.4:c.1245_1246del MANE Select NP_055723.1:p.Met415IlefsTer16
Search 100 bp 5'
Search 100 bp 3'