Canonical Allele Identifier: CA1306468595

Gene: BBS5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487732_169487736delinsCTTTT , CM000664.2:g.169487732_169487736delinsCTTTT	GRCh38
NC_000002.11:g.170344242_170344246delinsCTTTT , CM000664.1:g.170344242_170344246delinsCTTTT	GRCh37
NC_000002.10:g.170052488_170052492delinsCTTTT	NCBI36
NG_011567.1:g.13237_13241delinsCTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.209-74_209-70delinsCTTTT MANE Select	ENSP00000295240.3:n.209-74_209-70delinsCT...
ENST00000295240.7:c.209-74_209-70delinsCTTTT	ENSP00000295240.3:n.209-74_209-70delinsCT...
ENST00000392663.6:c.209-74_209-70delinsCTTTT	ENSP00000376431.2:n.209-74_209-70delinsCT...
ENST00000443151.1:c.143-255_143-251delinsCTTTT	ENSP00000406182.1:n.143-255_143-251delins...
ENST00000513963.1:c.209-74_209-70delinsCTTTT	ENSP00000424363.1:n.209-74_209-70delinsCT...
NM_152384.2:c.209-74_209-70delinsCTTTT	NP_689597.1:n.209-74_209-70delinsCTTTT
NM_152384.3:c.209-74_209-70delinsCTTTT MANE Select	NP_689597.1:n.209-74_209-70delinsCTTTT