Canonical Allele Identifier: CA1139662786
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 952132
ClinVar RCV Id: RCV001224182 RCV003462763
dbSNP Id: rs1951753726
gnomAD v4: 12-76345932-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345935del , CM000674.2:g.76345935del GRCh38
NC_000012.11:g.76739715del , CM000674.1:g.76739715del GRCh37
NC_000012.10:g.75263846del NCBI36
NG_016357.1:g.7510del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2052del MANE Select ENSP00000497413.1:p.Lys684AsnfsTer5
ENST00000393262.3:c.2052del ENSP00000376946.3:p.Lys684AsnfsTer5
NM_024685.3:c.2052del NP_078961.3:p.Lys684AsnfsTer5
NM_024685.4:c.2052del MANE Select NP_078961.3:p.Lys684AsnfsTer5
Search 100 bp 5'
Search 100 bp 3'