Canonical Allele Identifier: CA6694266
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 432013
ClinVar RCV Id: RCV000497796 RCV000984153 RCV000811417 RCV002508143 RCV003403151
dbSNP Id: rs780059308
ExAC: 12:76740852 TCTGA / T
gnomAD v2: 12-76740852-TCTGA-T
gnomAD v3: 12-76347072-TCTGA-T
gnomAD v4: 12-76347072-TCTGA-T
MyVariant Identifiers: chr12:g.76740853_76740856del (hg19) chr12:g.76347073_76347076del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347075_76347078del , CM000674.2:g.76347075_76347078del GRCh38
NC_000012.11:g.76740855_76740858del , CM000674.1:g.76740855_76740858del GRCh37
NC_000012.10:g.75264986_75264989del NCBI36
NG_016357.1:g.6367_6370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.909_912del MANE Select ENSP00000497413.1:p.Ser303ArgfsTer3
ENST00000393262.3:c.909_912del ENSP00000376946.3:p.Ser303ArgfsTer3
NM_024685.3:c.909_912del NP_078961.3:p.Ser303ArgfsTer3
NM_024685.4:c.909_912del MANE Select NP_078961.3:p.Ser303ArgfsTer3
Search 100 bp 5'
Search 100 bp 3'