Canonical Allele Identifier: CA274162
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 188941
ClinVar RCV Id: RCV000169315 RCV001174881
dbSNP Id: rs786204573
gnomAD v3: 12-76346800-G-GT
gnomAD v4: 12-76346800-G-GT
MyVariant Identifiers: chr12:g.76740581dupT (hg19) chr12:g.76740580_76740581insT (hg19) chr12:g.76346801dupT (hg38) chr12:g.76346800_76346801insT (hg38)
PubMed: PMID:16582908 PMID:21209035
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346801dup , CM000674.2:g.76346801dup GRCh38
NC_000012.11:g.76740581dup , CM000674.1:g.76740581dup GRCh37
NC_000012.10:g.75264712dup NCBI36
NG_016357.1:g.6642dup

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1184dup MANE Select ENSP00000497413.1:p.His395GlnfsTer14
ENST00000393262.3:c.1184dup ENSP00000376946.3:p.His395GlnfsTer14
NM_024685.3:c.1184dup NP_078961.3:p.His395GlnfsTer14
NM_024685.4:c.1184dup MANE Select NP_078961.3:p.His395GlnfsTer14
Search 100 bp 5'
Search 100 bp 3'