Canonical Allele Identifier: CA2692393496
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644278del , CM000671.2:g.133644278del GRCh38
NC_000009.11:g.136509400del , CM000671.1:g.136509400del GRCh37
NC_000009.10:g.135499221del NCBI36
NG_008645.1:g.12916del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.982del MANE Select ENSP00000376776.2:p.Leu328SerfsTer12
ENST00000393056.6:c.982del ENSP00000376776.2:p.Leu328SerfsTer12
NM_000787.3:c.982del NP_000778.3:p.Leu328SerfsTer12
NM_000787.4:c.982del MANE Select NP_000778.3:p.Leu328SerfsTer12