Canonical Allele Identifier: CA2575230731
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679968
ClinVar RCV Id: RCV003465031
gnomAD v4: 12-76347139-CTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347142_76347143del , CM000674.2:g.76347142_76347143del GRCh38
NC_000012.11:g.76740922_76740923del , CM000674.1:g.76740922_76740923del GRCh37
NC_000012.10:g.75265053_75265054del NCBI36
NG_016357.1:g.6302_6303del

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.844_845del MANE Select ENSP00000497413.1:p.Gln282ValfsTer21
ENST00000393262.3:c.844_845del ENSP00000376946.3:p.Gln282ValfsTer21
NM_024685.3:c.844_845del NP_078961.3:p.Gln282ValfsTer21
NM_024685.4:c.844_845del MANE Select NP_078961.3:p.Gln282ValfsTer21
Search 100 bp 5'
Search 100 bp 3'