Canonical Allele Identifier: CA2695199109
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679980
ClinVar RCV Id: RCV003474313 RCV003633720
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346285dup , CM000674.2:g.76346285dup GRCh38
NC_000012.11:g.76740065dup , CM000674.1:g.76740065dup GRCh37
NC_000012.10:g.75264196dup NCBI36
NG_016357.1:g.7159dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1701dup MANE Select ENSP00000497413.1:p.Thr568TyrfsTer2
ENST00000393262.3:c.1701dup ENSP00000376946.3:p.Thr568TyrfsTer2
NM_024685.3:c.1701dup NP_078961.3:p.Thr568TyrfsTer2
NM_024685.4:c.1701dup MANE Select NP_078961.3:p.Thr568TyrfsTer2
Search 100 bp 5'
Search 100 bp 3'