Canonical Allele Identifier: CA1306468564

Gene: BBS5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487641_169487645delinsATTAT , CM000664.2:g.169487641_169487645delinsATTAT	GRCh38
NC_000002.11:g.170344151_170344155delinsATTAT , CM000664.1:g.170344151_170344155delinsATTAT	GRCh37
NC_000002.10:g.170052397_170052401delinsATTAT	NCBI36
NG_011567.1:g.13146_13150delinsATTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295240.8:c.209-165_209-161delinsATTAT MANE Select	ENSP00000295240.3:n.209-165_209-161delinsATTAT
ENST00000295240.7:c.209-165_209-161delinsATTAT	ENSP00000295240.3:n.209-165_209-161delinsATTAT
ENST00000392663.6:c.209-165_209-161delinsATTAT	ENSP00000376431.2:n.209-165_209-161delinsATTAT
ENST00000443151.1:c.143-346_143-342delinsATTAT	ENSP00000406182.1:n.143-346_143-342delinsATTAT
ENST00000513963.1:c.209-165_209-161delinsATTAT	ENSP00000424363.1:n.209-165_209-161delinsATTAT
NM_152384.2:c.209-165_209-161delinsATTAT	NP_689597.1:n.209-165_209-161delinsATTAT
NM_152384.3:c.209-165_209-161delinsATTAT MANE Select	NP_689597.1:n.209-165_209-161delinsATTAT