Canonical Allele Identifier: CA2697558197
Gene: DBH HGNC NCBI

Linked Data

ClinVar Variation Id: 2761924
ClinVar RCV Id: RCV003498638
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644241del , CM000671.2:g.133644241del GRCh38
NC_000009.11:g.136509363del , CM000671.1:g.136509363del GRCh37
NC_000009.10:g.135499184del NCBI36
NG_008645.1:g.12879del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.945del MANE Select ENSP00000376776.2:p.Gly316AlafsTer24
ENST00000393056.6:c.945del ENSP00000376776.2:p.Gly316AlafsTer24
NM_000787.3:c.945del NP_000778.3:p.Gly316AlafsTer24
NM_000787.4:c.945del MANE Select NP_000778.3:p.Gly316AlafsTer24
Search 100 bp 5'
Search 100 bp 3'