Canonical Allele Identifier: CA2692393477

Gene: DBH

Linked Data

• gnomAD v4: 9-133644193-CTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644194_133644196del , CM000671.2:g.133644194_133644196del	GRCh38
NC_000009.11:g.136509316_136509318del , CM000671.1:g.136509316_136509318del	GRCh37
NC_000009.10:g.135499137_135499139del	NCBI36
NG_008645.1:g.12832_12834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.922-24_922-22del MANE Select	ENSP00000376776.2:n.922-24_922-22del
ENST00000393056.6:c.922-24_922-22del	ENSP00000376776.2:n.922-24_922-22del
NM_000787.3:c.922-24_922-22del	NP_000778.3:n.922-24_922-22del
NM_000787.4:c.922-24_922-22del MANE Select	NP_000778.3:n.922-24_922-22del