Canonical Allele Identifier: CA2695199110
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679965
ClinVar RCV Id: RCV003465028
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1676del MANE Select ENSP00000497413.1:p.Tyr559SerfsTer18
ENST00000393262.3:c.1676del ENSP00000376946.3:p.Tyr559SerfsTer18
NM_024685.3:c.1676del NP_078961.3:p.Tyr559SerfsTer18
NM_024685.4:c.1676del MANE Select NP_078961.3:p.Tyr559SerfsTer18
Search 100 bp 5'
Search 100 bp 3'