Canonical Allele Identifier: CA200444527

Gene: DOLK

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)

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