Canonical Allele Identifier: CA658823422
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 551979
ClinVar RCV Id: RCV000667159
dbSNP Id: rs1555202562
MyVariant Identifiers: chr12:g.76346033del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346035del , CM000674.2:g.76346035del GRCh38
NC_000012.11:g.76739815del , CM000674.1:g.76739815del GRCh37
NC_000012.10:g.75263946del NCBI36
NG_016357.1:g.7410del

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1952del MANE Select ENSP00000497413.1:p.Lys651SerfsTer9
ENST00000393262.3:c.1952del ENSP00000376946.3:p.Lys651SerfsTer9
NM_024685.3:c.1952del NP_078961.3:p.Lys651SerfsTer9
NM_024685.4:c.1952del MANE Select NP_078961.3:p.Lys651SerfsTer9
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Search 100 bp 3'