Canonical Allele Identifier: CA575783396

Gene: BUD23

Linked Data

• dbSNP Id: rs1351984280
• gnomAD v2: 7-73097855-T-TG
• gnomAD v3: 7-73683525-T-TG
• gnomAD v4: 7-73683525-T-TG
• MyVariant Identifiers: chr7:g.73097855_73097856insG (hg19) ; chr7:g.73683525_73683526insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683530dup , CM000669.2:g.73683530dup	GRCh38
NC_000007.13:g.73097860dup , CM000669.1:g.73097860dup	GRCh37
NC_000007.12:g.72735796dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464615.1:n.359+147dup