Canonical Allele Identifier: CA1306470957
Gene: BBS5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492816T= , CM000664.2:g.169492816T= GRCh38
NC_000002.11:g.170349326T= , CM000664.1:g.170349326T= GRCh37
NC_000002.10:g.170057572T= NCBI36
NG_011567.1:g.18321T=

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.387-58T= MANE Select ENSP00000295240.3:n.387-58T=
ENST00000295240.7:c.387-58T= ENSP00000295240.3:n.387-58T=
ENST00000392663.6:c.387-58T= ENSP00000376431.2:n.387-58T=
ENST00000443151.1:c.*109-58T= ENSP00000406182.1:n.*109-58T=
ENST00000475571.1:n.354-58T=
ENST00000513963.1:c.387-58T= ENSP00000424363.1:n.387-58T=
NM_152384.2:c.387-58T= NP_689597.1:n.387-58T=
NM_152384.3:c.387-58T= MANE Select NP_689597.1:n.387-58T=
Search 100 bp 5'
Search 100 bp 3'