Canonical Allele Identifier: CA916705834

Gene: BBS5

Linked Data

• dbSNP Id: rs1210030457
• gnomAD v3: 2-169487632-GT-G
• gnomAD v4: 2-169487632-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487639del , CM000664.2:g.169487639del	GRCh38
NC_000002.11:g.170344149del , CM000664.1:g.170344149del	GRCh37
NC_000002.10:g.170052395del	NCBI36
NG_011567.1:g.13144del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.209-167del MANE Select	ENSP00000295240.3:n.209-167del
ENST00000295240.7:c.209-167del	ENSP00000295240.3:n.209-167del
ENST00000392663.6:c.209-167del	ENSP00000376431.2:n.209-167del
ENST00000443151.1:c.143-348del	ENSP00000406182.1:n.143-348del
ENST00000513963.1:c.209-167del	ENSP00000424363.1:n.209-167del
NM_152384.2:c.209-167del	NP_689597.1:n.209-167del
NM_152384.3:c.209-167del MANE Select	NP_689597.1:n.209-167del