Canonical Allele Identifier: CA2700891737

Gene: BBS5

Linked Data

• dbSNP Id: rs2105294670

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487769dup , CM000664.2:g.169487769dup	GRCh38
NC_000002.11:g.170344279dup , CM000664.1:g.170344279dup	GRCh37
NC_000002.10:g.170052525dup	NCBI36
NG_011567.1:g.13274dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295240.8:c.209-37dup MANE Select	ENSP00000295240.3:n.209-37dup
ENST00000295240.7:c.209-37dup	ENSP00000295240.3:n.209-37dup
ENST00000392663.6:c.209-37dup	ENSP00000376431.2:n.209-37dup
ENST00000443151.1:c.143-218dup	ENSP00000406182.1:n.143-218dup
ENST00000475571.1:n.8dup
ENST00000513963.1:c.209-37dup	ENSP00000424363.1:n.209-37dup
NM_152384.2:c.209-37dup	NP_689597.1:n.209-37dup
NM_152384.3:c.209-37dup MANE Select	NP_689597.1:n.209-37dup