Canonical Allele Identifier: CA1306470998
Gene: BBS5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492912_169492915delinsTAAG , CM000664.2:g.169492912_169492915delinsTAAG GRCh38
NC_000002.11:g.170349422_170349425delinsTAAG , CM000664.1:g.170349422_170349425delinsTAAG GRCh37
NC_000002.10:g.170057668_170057671delinsTAAG NCBI36
NG_011567.1:g.18417_18420delinsTAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.425_428delinsTAAG MANE Select ENSP00000295240.3:p.Leu142=
ENST00000295240.7:c.425_428delinsTAAG ENSP00000295240.3:p.Leu142=
ENST00000392663.6:c.425_428delinsTAAG ENSP00000376431.2:p.Leu142=
ENST00000443151.1:c.*147_*150delinsTAAG ENSP00000406182.1:n.*147_*150delinsTAAG
ENST00000475571.1:n.392_395delinsTAAG
ENST00000513963.1:c.425_428delinsTAAG ENSP00000424363.1:p.Leu142=
NM_152384.2:c.425_428delinsTAAG NP_689597.1:p.Leu142=
NM_152384.3:c.425_428delinsTAAG MANE Select NP_689597.1:p.Leu142=
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