Canonical Allele Identifier: CA2047353236
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1951756938
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346277_76346278del , CM000674.2:g.76346277_76346278del GRCh38
NC_000012.11:g.76740057_76740058del , CM000674.1:g.76740057_76740058del GRCh37
NC_000012.10:g.75264188_75264189del NCBI36
NG_016357.1:g.7166_7167del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1708_1709del MANE Select ENSP00000497413.1:p.Lys570GlyfsTer9
ENST00000393262.3:c.1708_1709del ENSP00000376946.3:p.Lys570GlyfsTer9
NM_024685.3:c.1708_1709del NP_078961.3:p.Lys570GlyfsTer9
NM_024685.4:c.1708_1709del MANE Select NP_078961.3:p.Lys570GlyfsTer9
Search 100 bp 5'
Search 100 bp 3'