Canonical Allele Identifier: CA1129759575
Gene: DBH HGNC NCBI

Linked Data

gnomAD v3: 9-133644189-CCGTCTGTCT-C
gnomAD v4: 9-133644189-CCGTCTGTCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644190_133644198del , CM000671.2:g.133644190_133644198del GRCh38
NC_000009.11:g.136509312_136509320del , CM000671.1:g.136509312_136509320del GRCh37
NC_000009.10:g.135499133_135499141del NCBI36
NG_008645.1:g.12828_12836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.922-28_922-20del MANE Select ENSP00000376776.2:n.922-28_922-20del
ENST00000393056.6:c.922-28_922-20del ENSP00000376776.2:n.922-28_922-20del
NM_000787.3:c.922-28_922-20del NP_000778.3:n.922-28_922-20del
NM_000787.4:c.922-28_922-20del MANE Select NP_000778.3:n.922-28_922-20del
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