Canonical Allele Identifier: CA16041575
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 370612
ClinVar RCV Id: RCV000410373 RCV001216227
dbSNP Id: rs1057516628
MyVariant Identifiers: chr12:g.76739806del (hg19) chr12:g.76346026del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346026del , CM000674.2:g.76346026del GRCh38
NC_000012.11:g.76739806del , CM000674.1:g.76739806del GRCh37
NC_000012.10:g.75263937del NCBI36
NG_016357.1:g.7417del

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1959del MANE Select ENSP00000497413.1:p.Pro655HisfsTer5
ENST00000393262.3:c.1959del ENSP00000376946.3:p.Pro655HisfsTer5
NM_024685.3:c.1959del NP_078961.3:p.Pro655HisfsTer5
NM_024685.4:c.1959del MANE Select NP_078961.3:p.Pro655HisfsTer5
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