Canonical Allele Identifier: CA1306468622
Gene: BBS5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487790T= , CM000664.2:g.169487790T= GRCh38
NC_000002.11:g.170344300T= , CM000664.1:g.170344300T= GRCh37
NC_000002.10:g.170052546T= NCBI36
NG_011567.1:g.13295T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.209-16T= MANE Select ENSP00000295240.3:n.209-16T=
ENST00000295240.7:c.209-16T= ENSP00000295240.3:n.209-16T=
ENST00000392663.6:c.209-16T= ENSP00000376431.2:n.209-16T=
ENST00000443151.1:c.143-197T= ENSP00000406182.1:n.143-197T=
ENST00000475571.1:n.29T=
ENST00000513963.1:c.209-16T= ENSP00000424363.1:n.209-16T=
NM_152384.2:c.209-16T= NP_689597.1:n.209-16T=
NM_152384.3:c.209-16T= MANE Select NP_689597.1:n.209-16T=
Search 100 bp 5'
Search 100 bp 3'