Canonical Allele Identifier: CA2796591357
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347055dup , CM000674.2:g.76347055dup GRCh38
NC_000012.11:g.76740835dup , CM000674.1:g.76740835dup GRCh37
NC_000012.10:g.75264966dup NCBI36
NG_016357.1:g.6388dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.930dup MANE Select ENSP00000497413.1:p.Ser311IlefsTer2
ENST00000393262.3:c.930dup ENSP00000376946.3:p.Ser311IlefsTer2
NM_024685.3:c.930dup NP_078961.3:p.Ser311IlefsTer2
NM_024685.4:c.930dup MANE Select NP_078961.3:p.Ser311IlefsTer2
Search 100 bp 5'
Search 100 bp 3'