Canonical Allele Identifier: CA356962
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 217440
ClinVar RCV Id: RCV000207760 RCV003522947
dbSNP Id: rs869025211
MyVariant Identifiers: chr12:g.76740218del (hg19) chr12:g.76346438del (hg38)
PubMed: PMID:26518167
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346438del , CM000674.2:g.76346438del GRCh38
NC_000012.11:g.76740218del , CM000674.1:g.76740218del GRCh37
NC_000012.10:g.75264349del NCBI36
NG_016357.1:g.7005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1547del MANE Select ENSP00000497413.1:p.Thr516AsnfsTer8
ENST00000393262.3:c.1547del ENSP00000376946.3:p.Thr516AsnfsTer8
NM_024685.3:c.1547del NP_078961.3:p.Thr516AsnfsTer8
NM_024685.4:c.1547del MANE Select NP_078961.3:p.Thr516AsnfsTer8
Search 100 bp 5'
Search 100 bp 3'