Canonical Allele Identifier: CA16041580
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 371290
dbSNP Id: rs1057517156

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346740_76346752del , CM000674.2:g.76346740_76346752del GRCh38
NC_000012.11:g.76740520_76740532del , CM000674.1:g.76740520_76740532del GRCh37
NC_000012.10:g.75264651_75264663del NCBI36
NG_016357.1:g.6694_6706del

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1236_1248del MANE Select ENSP00000497413.1:p.Asp412GlufsTer15
ENST00000393262.3:c.1236_1248del ENSP00000376946.3:p.Asp412GlufsTer15
NM_024685.3:c.1236_1248del NP_078961.3:p.Asp412GlufsTer15
NM_024685.4:c.1236_1248del MANE Select NP_078961.3:p.Asp412GlufsTer15