Canonical Allele Identifier: CA273303
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 166723
dbSNP Id: rs727503818

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346895del , CM000674.2:g.76346895del GRCh38
NC_000012.11:g.76740675del , CM000674.1:g.76740675del GRCh37
NC_000012.10:g.75264806del NCBI36
NG_016357.1:g.6549del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1091del MANE Select ENSP00000497413.1:p.Asn364ThrfsTer5
ENST00000393262.3:c.1091del ENSP00000376946.3:p.Asn364ThrfsTer5
NM_024685.3:c.1091del NP_078961.3:p.Asn364ThrfsTer5
NM_024685.4:c.1091del MANE Select NP_078961.3:p.Asn364ThrfsTer5