Canonical Allele Identifier: CA2661828337
Gene: BBS5 HGNC NCBI

Linked Data

gnomAD v4: 2-169493688-G-GATAAATA
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169493689_169493690insTAAATAA , CM000664.2:g.169493689_169493690insTAAATAA GRCh38
NC_000002.11:g.170350199_170350200insTAAATAA , CM000664.1:g.170350199_170350200insTAAATAA GRCh37
NC_000002.10:g.170058445_170058446insTAAATAA NCBI36
NG_011567.1:g.19194_19195insTAAATAA

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.523-52_523-51insTAAATAA MANE Select ENSP00000295240.3:n.523-52_523-51insTAAATAA
ENST00000295240.7:c.523-52_523-51insTAAATAA ENSP00000295240.3:n.523-52_523-51insTAAATAA
ENST00000392663.6:c.523-52_523-51insTAAATAA ENSP00000376431.2:n.523-52_523-51insTAAATAA
ENST00000443151.1:c.*245-52_*245-51insTAAATAA ENSP00000406182.1:n.*245-52_*245-51insTAAATAA
ENST00000513963.1:c.523-52_523-51insTAAATAA ENSP00000424363.1:n.523-52_523-51insTAAATAA
NM_152384.2:c.523-52_523-51insTAAATAA NP_689597.1:n.523-52_523-51insTAAATAA
NM_152384.3:c.523-52_523-51insTAAATAA MANE Select NP_689597.1:n.523-52_523-51insTAAATAA
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