Canonical Allele Identifier: CA1306468637
Gene: BBS5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487834_169487837delinsTACA , CM000664.2:g.169487834_169487837delinsTACA GRCh38
NC_000002.11:g.170344344_170344347delinsTACA , CM000664.1:g.170344344_170344347delinsTACA GRCh37
NC_000002.10:g.170052590_170052593delinsTACA NCBI36
NG_011567.1:g.13339_13342delinsTACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.237_240delinsTACA MANE Select ENSP00000295240.3:p.Ile79=
ENST00000295240.7:c.237_240delinsTACA ENSP00000295240.3:p.Ile79=
ENST00000392663.6:c.237_240delinsTACA ENSP00000376431.2:p.Ile79=
ENST00000443151.1:c.143-153_143-150delinsTACA ENSP00000406182.1:n.143-153_143-150delinsTACA
ENST00000475571.1:n.73_76delinsTACA
ENST00000513963.1:c.237_240delinsTACA ENSP00000424363.1:p.Ile79=
NM_152384.2:c.237_240delinsTACA NP_689597.1:p.Ile79=
NM_152384.3:c.237_240delinsTACA MANE Select NP_689597.1:p.Ile79=
Search 100 bp 5'
Search 100 bp 3'