Canonical Allele Identifier: CA2047353310
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679979
ClinVar RCV Id: RCV003474312
dbSNP Id: rs1835577032
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346430_76346433del , CM000674.2:g.76346430_76346433del GRCh38
NC_000012.11:g.76740210_76740213del , CM000674.1:g.76740210_76740213del GRCh37
NC_000012.10:g.75264341_75264344del NCBI36
NG_016357.1:g.7012_7015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1554_1557del MANE Select ENSP00000497413.1:p.Thr519LeufsTer4
ENST00000393262.3:c.1554_1557del ENSP00000376946.3:p.Thr519LeufsTer4
NM_024685.3:c.1554_1557del NP_078961.3:p.Thr519LeufsTer4
NM_024685.4:c.1554_1557del MANE Select NP_078961.3:p.Thr519LeufsTer4
Search 100 bp 5'
Search 100 bp 3'