Canonical Allele Identifier: CA2047353061
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 988217
ClinVar RCV Id: RCV001328243
dbSNP Id: rs1951753208
gnomAD v4: 12-76345861-CTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345862_76345863del , CM000674.2:g.76345862_76345863del GRCh38
NC_000012.11:g.76739642_76739643del , CM000674.1:g.76739642_76739643del GRCh37
NC_000012.10:g.75263773_75263774del NCBI36
NG_016357.1:g.7580_7581del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2122_2123del MANE Select ENSP00000497413.1:p.Lys708GlufsTer14
ENST00000393262.3:c.2122_2123del ENSP00000376946.3:p.Lys708GlufsTer14
NM_024685.3:c.2122_2123del NP_078961.3:p.Lys708GlufsTer14
NM_024685.4:c.2122_2123del MANE Select NP_078961.3:p.Lys708GlufsTer14
Search 100 bp 5'
Search 100 bp 3'