Canonical Allele Identifier: CA2661827933
Gene: BBS5 HGNC NCBI

Linked Data

gnomAD v4: 2-169487732-CTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487740_169487741del , CM000664.2:g.169487740_169487741del GRCh38
NC_000002.11:g.170344250_170344251del , CM000664.1:g.170344250_170344251del GRCh37
NC_000002.10:g.170052496_170052497del NCBI36
NG_011567.1:g.13245_13246del

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.209-66_209-65del MANE Select ENSP00000295240.3:n.209-66_209-65del
ENST00000295240.7:c.209-66_209-65del ENSP00000295240.3:n.209-66_209-65del
ENST00000392663.6:c.209-66_209-65del ENSP00000376431.2:n.209-66_209-65del
ENST00000443151.1:c.143-247_143-246del ENSP00000406182.1:n.143-247_143-246del
ENST00000513963.1:c.209-66_209-65del ENSP00000424363.1:n.209-66_209-65del
NM_152384.2:c.209-66_209-65del NP_689597.1:n.209-66_209-65del
NM_152384.3:c.209-66_209-65del MANE Select NP_689597.1:n.209-66_209-65del
Search 100 bp 5'
Search 100 bp 3'