Canonical Allele Identifier: CA2695199118
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679973
ClinVar RCV Id: RCV003465036 RCV003523196
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347736del , CM000674.2:g.76347736del GRCh38
NC_000012.11:g.76741516del , CM000674.1:g.76741516del GRCh37
NC_000012.10:g.75265647del NCBI36
NG_016357.1:g.5711del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.253del MANE Select ENSP00000497413.1:p.Thr85HisfsTer24
ENST00000393262.3:c.253del ENSP00000376946.3:p.Thr85HisfsTer24
NM_024685.3:c.253del NP_078961.3:p.Thr85HisfsTer24
NM_024685.4:c.253del MANE Select NP_078961.3:p.Thr85HisfsTer24
Search 100 bp 5'
Search 100 bp 3'