Canonical Allele Identifier: CA2753108831

Gene: BBS5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487746_169487747insTTTT , CM000664.2:g.169487746_169487747insTTTT	GRCh38
NC_000002.11:g.170344256_170344257insTTTT , CM000664.1:g.170344256_170344257insTTTT	GRCh37
NC_000002.10:g.170052502_170052503insTTTT	NCBI36
NG_011567.1:g.13251_13252insTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.209-60_209-59insTTTT MANE Select	ENSP00000295240.3:n.209-60_209-59insTTTT
ENST00000295240.7:c.209-60_209-59insTTTT	ENSP00000295240.3:n.209-60_209-59insTTTT
ENST00000392663.6:c.209-60_209-59insTTTT	ENSP00000376431.2:n.209-60_209-59insTTTT
ENST00000443151.1:c.143-241_143-240insTTTT	ENSP00000406182.1:n.143-241_143-240insTTT...
ENST00000513963.1:c.209-60_209-59insTTTT	ENSP00000424363.1:n.209-60_209-59insTTTT
NM_152384.2:c.209-60_209-59insTTTT	NP_689597.1:n.209-60_209-59insTTTT
NM_152384.3:c.209-60_209-59insTTTT MANE Select	NP_689597.1:n.209-60_209-59insTTTT