Canonical Allele Identifier: CA2573148993
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1455752
ClinVar RCV Id: RCV001946697
dbSNP Id: rs2136090739
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347034del , CM000674.2:g.76347034del GRCh38
NC_000012.11:g.76740814del , CM000674.1:g.76740814del GRCh37
NC_000012.10:g.75264945del NCBI36
NG_016357.1:g.6411del

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.953del MANE Select ENSP00000497413.1:p.Leu318Ter
ENST00000393262.3:c.953del ENSP00000376946.3:p.Leu318Ter
NM_024685.3:c.953del NP_078961.3:p.Leu318Ter
NM_024685.4:c.953del MANE Select NP_078961.3:p.Leu318Ter
Search 100 bp 5'
Search 100 bp 3'