Canonical Allele Identifier: CA606185890
Gene: BBS10 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'