Canonical Allele Identifier: CA2577150984

Gene: BBS5

Linked Data

• gnomAD v4: 2-169487854-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487856_169487857del , CM000664.2:g.169487856_169487857del	GRCh38
NC_000002.11:g.170344366_170344367del , CM000664.1:g.170344366_170344367del	GRCh37
NC_000002.10:g.170052612_170052613del	NCBI36
NG_011567.1:g.13361_13362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295240.8:c.258+1_258+2del
ENST00000295240.7:c.258+1_258+2del
ENST00000392663.6:c.258+1_258+2del
ENST00000443151.1:c.143-131_143-130del	ENSP00000406182.1:n.143-131_143-130del
ENST00000475571.1:n.95_96del
ENST00000513963.1:c.258+1_258+2del
NM_152384.2:c.258+1_258+2del
NM_152384.3:c.258+1_258+2del