Canonical Allele Identifier: CA575783401

Gene: BUD23

Linked Data

• dbSNP Id: rs1563548013
• gnomAD v2: 7-73097893-C-CTGA
• gnomAD v4: 7-73683563-C-CTGA
• MyVariant Identifiers: chr7:g.73097894_73097895insGAT (hg19) ; chr7:g.73683564_73683565insGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683567_73683569dup , CM000669.2:g.73683567_73683569dup	GRCh38
NC_000007.13:g.73097897_73097899dup , CM000669.1:g.73097897_73097899dup	GRCh37
NC_000007.12:g.72735833_72735835dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464615.1:n.359+184_359+186dup