Canonical Allele Identifier: CA575783393

Gene: BUD23

Linked Data

• dbSNP Id: rs71082251
• gnomAD v2: 7-73097835-A-AG
• gnomAD v3: 7-73683505-A-AG
• gnomAD v4: 7-73683505-A-AG
• MyVariant Identifiers: chr7:g.73097836_73097837insG (hg19) ; chr7:g.73683506_73683507insG (hg38) ; chr7:g.73683505_73683506insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683513dup , CM000669.2:g.73683513dup	GRCh38
NC_000007.13:g.73097843dup , CM000669.1:g.73097843dup	GRCh37
NC_000007.12:g.72735779dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464615.1:n.359+130dup