Canonical Allele Identifier: CA1039085474

Gene: BBS5

Linked Data

• dbSNP Id: rs1683510703
• gnomAD v3: 2-169487750-A-AT
• gnomAD v4: 2-169487750-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487756dup , CM000664.2:g.169487756dup	GRCh38
NC_000002.11:g.170344266dup , CM000664.1:g.170344266dup	GRCh37
NC_000002.10:g.170052512dup	NCBI36
NG_011567.1:g.13261dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.209-50dup MANE Select	ENSP00000295240.3:n.209-50dup
ENST00000295240.7:c.209-50dup	ENSP00000295240.3:n.209-50dup
ENST00000392663.6:c.209-50dup	ENSP00000376431.2:n.209-50dup
ENST00000443151.1:c.143-231dup	ENSP00000406182.1:n.143-231dup
ENST00000513963.1:c.209-50dup	ENSP00000424363.1:n.209-50dup
NM_152384.2:c.209-50dup	NP_689597.1:n.209-50dup
NM_152384.3:c.209-50dup MANE Select	NP_689597.1:n.209-50dup