Canonical Allele Identifier: CA537568651

Gene: BBS5

Linked Data

• dbSNP Id: rs1553527307
• gnomAD v2: 2-170344242-C-CA
• gnomAD v4: 2-169487732-C-CA
• MyVariant Identifiers: chr2:g.170344243delinsAT (hg19) ; chr2:g.169487733delinsAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169487732_169487733insA , CM000664.2:g.169487732_169487733insA	GRCh38
NC_000002.11:g.170344242_170344243insA , CM000664.1:g.170344242_170344243insA	GRCh37
NC_000002.10:g.170052488_170052489insA	NCBI36
NG_011567.1:g.13237_13238insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.209-74_209-73insA MANE Select	ENSP00000295240.3:n.209-74_209-73insA
ENST00000295240.7:c.209-74_209-73insA	ENSP00000295240.3:n.209-74_209-73insA
ENST00000392663.6:c.209-74_209-73insA	ENSP00000376431.2:n.209-74_209-73insA
ENST00000443151.1:c.143-255_143-254insA	ENSP00000406182.1:n.143-255_143-254insA
ENST00000513963.1:c.209-74_209-73insA	ENSP00000424363.1:n.209-74_209-73insA
NM_152384.2:c.209-74_209-73insA	NP_689597.1:n.209-74_209-73insA
NM_152384.3:c.209-74_209-73insA MANE Select	NP_689597.1:n.209-74_209-73insA