Canonical Allele Identifier: CA273303

Gene: BBS10

Linked Data

• ClinVar Variation Id: 166723
• ClinVar RCV Id: RCV000152827 ; RCV000169072 ; RCV000723707 ; RCV001004383
• dbSNP Id: rs727503818
• ExAC: 12:76740673 GT / G
• gnomAD v2: 12-76740673-GT-G
• gnomAD v3: 12-76346893-GT-G
• gnomAD v4: 12-76346893-GT-G
• MyVariant Identifiers: chr12:g.76740674del (hg19) ; chr12:g.76740675delT (hg19) ; chr12:g.76740674delT (hg19) ; chr12:g.76346894del (hg38)
• PubMed: PMID:17106446 ; PMID:20177705 ; PMID:21044901 ; PMID:21642631 ; PMID:23591405 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346895del , CM000674.2:g.76346895del	GRCh38
NC_000012.11:g.76740675del , CM000674.1:g.76740675del	GRCh37
NC_000012.10:g.75264806del	NCBI36
NG_016357.1:g.6549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1091del MANE Select	ENSP00000497413.1:p.Asn364ThrfsTer5
ENST00000393262.3:c.1091del	ENSP00000376946.3:p.Asn364ThrfsTer5
NM_024685.3:c.1091del	NP_078961.3:p.Asn364ThrfsTer5
NM_024685.4:c.1091del MANE Select	NP_078961.3:p.Asn364ThrfsTer5