Canonical Allele Identifier: CA658797933
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 503772
ClinVar RCV Id: RCV000598549 RCV003471969
dbSNP Id: rs1555202538
gnomAD v3: 12-76345844-ACTTT-A
gnomAD v4: 12-76345844-ACTTT-A
MyVariant Identifiers: chr12:g.76739625_76739628del (hg19) chr12:g.76345845_76345848del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345847_76345850del , CM000674.2:g.76345847_76345850del GRCh38
NC_000012.11:g.76739627_76739630del , CM000674.1:g.76739627_76739630del GRCh37
NC_000012.10:g.75263758_75263761del NCBI36
NG_016357.1:g.7595_7598del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2137_2140del MANE Select ENSP00000497413.1:p.Lys713PhefsTer16
ENST00000393262.3:c.2137_2140del ENSP00000376946.3:p.Lys713PhefsTer16
NM_024685.3:c.2137_2140del NP_078961.3:p.Lys713PhefsTer16
NM_024685.4:c.2137_2140del MANE Select NP_078961.3:p.Lys713PhefsTer16
Search 100 bp 5'
Search 100 bp 3'