Canonical Allele Identifier: CA2726584723
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs2136090023

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346333del , CM000674.2:g.76346333del GRCh38
NC_000012.11:g.76740113del , CM000674.1:g.76740113del GRCh37
NC_000012.10:g.75264244del NCBI36
NG_016357.1:g.7113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1655del MANE Select ENSP00000497413.1:p.Gly552GlufsTer4
ENST00000393262.3:c.1655del ENSP00000376946.3:p.Gly552GlufsTer4
NM_024685.3:c.1655del NP_078961.3:p.Gly552GlufsTer4
NM_024685.4:c.1655del MANE Select NP_078961.3:p.Gly552GlufsTer4