Canonical Allele Identifier: CA913191137
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 625446
ClinVar RCV Id: RCV000782275 RCV001825512
dbSNP Id: rs1565809478
gnomAD v3: 12-76346308-G-GT
gnomAD v4: 12-76346308-G-GT
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346309dup , CM000674.2:g.76346309dup GRCh38
NC_000012.11:g.76740089dup , CM000674.1:g.76740089dup GRCh37
NC_000012.10:g.75264220dup NCBI36
NG_016357.1:g.7134dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1676dup MANE Select ENSP00000497413.1:p.Tyr559Ter
ENST00000393262.3:c.1676dup ENSP00000376946.3:p.Tyr559Ter
NM_024685.3:c.1676dup NP_078961.3:p.Tyr559Ter
NM_024685.4:c.1676dup MANE Select NP_078961.3:p.Tyr559Ter
Search 100 bp 5'
Search 100 bp 3'