Canonical Allele Identifier: CA2661827938

Gene: BBS5

Linked Data

• gnomAD v4: 2-169487735-TTTTTTTAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487736_169487743del , CM000664.2:g.169487736_169487743del	GRCh38
NC_000002.11:g.170344246_170344253del , CM000664.1:g.170344246_170344253del	GRCh37
NC_000002.10:g.170052492_170052499del	NCBI36
NG_011567.1:g.13241_13248del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.209-70_209-63del MANE Select	ENSP00000295240.3:n.209-70_209-63del
ENST00000295240.7:c.209-70_209-63del	ENSP00000295240.3:n.209-70_209-63del
ENST00000392663.6:c.209-70_209-63del	ENSP00000376431.2:n.209-70_209-63del
ENST00000443151.1:c.143-251_143-244del	ENSP00000406182.1:n.143-251_143-244del
ENST00000513963.1:c.209-70_209-63del	ENSP00000424363.1:n.209-70_209-63del
NM_152384.2:c.209-70_209-63del	NP_689597.1:n.209-70_209-63del
NM_152384.3:c.209-70_209-63del MANE Select	NP_689597.1:n.209-70_209-63del