Canonical Allele Identifier: CA1306468581

Gene: BBS5

Linked Data

• dbSNP Id: rs1683509870
• gnomAD v4: 2-169487688-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487694_169487695dup , CM000664.2:g.169487694_169487695dup	GRCh38
NC_000002.11:g.170344204_170344205dup , CM000664.1:g.170344204_170344205dup	GRCh37
NC_000002.10:g.170052450_170052451dup	NCBI36
NG_011567.1:g.13199_13200dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295240.8:c.209-112_209-111dup MANE Select	ENSP00000295240.3:n.209-112_209-111dup
ENST00000295240.7:c.209-112_209-111dup	ENSP00000295240.3:n.209-112_209-111dup
ENST00000392663.6:c.209-112_209-111dup	ENSP00000376431.2:n.209-112_209-111dup
ENST00000443151.1:c.143-293_143-292dup	ENSP00000406182.1:n.143-293_143-292dup
ENST00000513963.1:c.209-112_209-111dup	ENSP00000424363.1:n.209-112_209-111dup
NM_152384.2:c.209-112_209-111dup	NP_689597.1:n.209-112_209-111dup
NM_152384.3:c.209-112_209-111dup MANE Select	NP_689597.1:n.209-112_209-111dup