Canonical Allele Identifier: CA200444527
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 1063967
ClinVar RCV Id: RCV001373869 RCV002350719
dbSNP Id: rs919111760
gnomAD v2: 9-131708380-ACT-A
gnomAD v3: 9-128946101-ACT-A
gnomAD v4: 9-128946101-ACT-A
MyVariant Identifiers: chr9:g.131708381_131708382del (hg19) chr9:g.128946102_128946103del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946102_128946103del , CM000671.2:g.128946102_128946103del GRCh38
NC_000009.11:g.131708381_131708382del , CM000671.1:g.131708381_131708382del GRCh37
NC_000009.10:g.130748202_130748203del NCBI36
NG_017009.1:g.6631_6632del , LRG_744:g.6631_6632del
NG_033111.1:g.3410_3411del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1201_1202del MANE Select ENSP00000361667.3:p.Ser401TrpfsTer30
ENST00000372586.3:c.1201_1202del ENSP00000361667.3:p.Ser401TrpfsTer30
ENST00000482796.1:c.39-3087_39-3086del ENSP00000417556.2:n.39-3087_39-3086del
NM_014908.3:c.1201_1202del , LRG_744t1:c.1201_1202del NP_055723.1:p.Ser401TrpfsTer30
NM_014908.4:c.1201_1202del MANE Select NP_055723.1:p.Ser401TrpfsTer30
Search 100 bp 5'
Search 100 bp 3'