Canonical Allele Identifier: CA16041581
Gene: BBS10 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371354
ClinVar RCV Id: RCV000409409
dbSNP Id: rs1057517206

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346796_76346797del , CM000674.2:g.76346796_76346797del GRCh38
NC_000012.11:g.76740576_76740577del , CM000674.1:g.76740576_76740577del GRCh37
NC_000012.10:g.75264707_75264708del NCBI36
NG_016357.1:g.6648_6649del

Transcript Alleles

HGVS Amino-acid change
NM_024685.3:c.1190_1191del VV NP_078961.3:p.Ile397SerfsTer11
NM_024685.4:c.1190_1191del VV
ENST00000393262.3:c.1190_1191del ENSP00000376946.3:p.Ile397SerfsTer11