Canonical Allele Identifier: CA591068105
Gene: DBH HGNC NCBI
DBH-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 731699
ClinVar RCV Id: RCV002537601
dbSNP Id: rs1564215290
gnomAD v2: 9-136522182-T-TC
gnomAD v4: 9-133657060-T-TC
MyVariant Identifiers: chr9:g.136522182_136522183insC (hg19) chr9:g.133657060_133657061insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133657064dup , CM000671.2:g.133657064dup GRCh38
NC_000009.11:g.136522186dup , CM000671.1:g.136522186dup GRCh37
NC_000009.10:g.135512007dup NCBI36
NG_008645.1:g.25702dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.1563-6dup (DBH) MANE Select ENSP00000376776.2:n.1563-6dup
ENST00000393056.6:c.1563-6dup (DBH) ENSP00000376776.2:n.1563-6dup
NM_000787.3:c.1563-6dup (DBH) NP_000778.3:n.1563-6dup
NR_102735.1:n.282+66dup (DBH-AS1)
NM_000787.4:c.1563-6dup (DBH) MANE Select NP_000778.3:n.1563-6dup
Search 100 bp 5'
Search 100 bp 3'