Canonical Allele Identifier: CA2695199112
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679984
ClinVar RCV Id: RCV003474317 RCV003523198
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346361_76346362insAC , CM000674.2:g.76346361_76346362insAC GRCh38
NC_000012.11:g.76740141_76740142insAC , CM000674.1:g.76740141_76740142insAC GRCh37
NC_000012.10:g.75264272_75264273insAC NCBI36
NG_016357.1:g.7081_7082insGT

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1623_1624insGT MANE Select ENSP00000497413.1:p.Lys542ValfsTer15
ENST00000393262.3:c.1623_1624insGT ENSP00000376946.3:p.Lys542ValfsTer15
NM_024685.3:c.1623_1624insGT NP_078961.3:p.Lys542ValfsTer15
NM_024685.4:c.1623_1624insGT MANE Select NP_078961.3:p.Lys542ValfsTer15
Search 100 bp 5'
Search 100 bp 3'