Canonical Allele Identifier: CA59933091

Gene: BBS5

Linked Data

• dbSNP Id: rs935775385
• gnomAD v2: 2-170350194-TAAAG-T
• gnomAD v3: 2-169493684-TAAAG-T
• gnomAD v4: 2-169493684-TAAAG-T
• MyVariant Identifiers: chr2:g.170350195_170350198del (hg19) ; chr2:g.169493685_169493688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169493687_169493690del , CM000664.2:g.169493687_169493690del	GRCh38
NC_000002.11:g.170350197_170350200del , CM000664.1:g.170350197_170350200del	GRCh37
NC_000002.10:g.170058443_170058446del	NCBI36
NG_011567.1:g.19192_19195del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295240.8:c.523-54_523-51del MANE Select	ENSP00000295240.3:n.523-54_523-51del
ENST00000295240.7:c.523-54_523-51del	ENSP00000295240.3:n.523-54_523-51del
ENST00000392663.6:c.523-54_523-51del	ENSP00000376431.2:n.523-54_523-51del
ENST00000443151.1:c.*245-54_*245-51del	ENSP00000406182.1:n.*245-54_*245-51del
ENST00000513963.1:c.523-54_523-51del	ENSP00000424363.1:n.523-54_523-51del
NM_152384.2:c.523-54_523-51del	NP_689597.1:n.523-54_523-51del
NM_152384.3:c.523-54_523-51del MANE Select	NP_689597.1:n.523-54_523-51del