Canonical Allele Identifier: CA2573148985
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454610
ClinVar RCV Id: RCV001941953
dbSNP Id: rs2136089682
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345942dup , CM000674.2:g.76345942dup GRCh38
NC_000012.11:g.76739722dup , CM000674.1:g.76739722dup GRCh37
NC_000012.10:g.75263853dup NCBI36
NG_016357.1:g.7502dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2044dup MANE Select ENSP00000497413.1:p.Met682AsnfsTer3
ENST00000393262.3:c.2044dup ENSP00000376946.3:p.Met682AsnfsTer3
NM_024685.3:c.2044dup NP_078961.3:p.Met682AsnfsTer3
NM_024685.4:c.2044dup MANE Select NP_078961.3:p.Met682AsnfsTer3
Search 100 bp 5'
Search 100 bp 3'