Canonical Allele Identifier: CA606185890

Gene: BBS10

Linked Data

• ClinVar Variation Id: 496471
• ClinVar RCV Id: RCV000586002 ; RCV000984154 ; RCV003392426
• dbSNP Id: rs1555202584
• gnomAD v2: 12-76740087-CG-C
• gnomAD v3: 12-76346307-CG-C
• gnomAD v4: 12-76346307-CG-C
• MyVariant Identifiers: chr12:g.76740088del (hg19) ; chr12:g.76346308del (hg38)
• PubMed: PMID:20472660 ; PMID:21052717 ; PMID:25366773

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346308del , CM000674.2:g.76346308del	GRCh38
NC_000012.11:g.76740088del , CM000674.1:g.76740088del	GRCh37
NC_000012.10:g.75264219del	NCBI36
NG_016357.1:g.7135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1677del MANE Select	ENSP00000497413.1:p.Tyr559Ter
ENST00000393262.3:c.1677del	ENSP00000376946.3:p.Tyr559Ter
NM_024685.3:c.1677del	NP_078961.3:p.Tyr559Ter
NM_024685.4:c.1677del MANE Select	NP_078961.3:p.Tyr559Ter