Canonical Allele Identifier: CA6694048
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 406221
ClinVar RCV Id: RCV000461059 RCV000665753 RCV001731689 RCV001074511
dbSNP Id: rs775950661
ExAC: 12:76739644 AAC / A
gnomAD v2: 12-76739644-AAC-A
gnomAD v3: 12-76345864-AAC-A
gnomAD v4: 12-76345864-AAC-A
MyVariant Identifiers: chr12:g.76739645_76739646del (hg19) chr12:g.76345865_76345866del (hg38)
PubMed: PMID:16582908 PMID:21157496 PMID:21209035
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345866_76345867del , CM000674.2:g.76345866_76345867del GRCh38
NC_000012.11:g.76739646_76739647del , CM000674.1:g.76739646_76739647del GRCh37
NC_000012.10:g.75263777_75263778del NCBI36
NG_016357.1:g.7577_7578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2119_2120del MANE Select ENSP00000497413.1:p.Val707Ter
ENST00000393262.3:c.2119_2120del ENSP00000376946.3:p.Val707Ter
NM_024685.3:c.2119_2120del NP_078961.3:p.Val707Ter
NM_024685.4:c.2119_2120del MANE Select NP_078961.3:p.Val707Ter
Search 100 bp 5'
Search 100 bp 3'