Canonical Allele Identifier: CA2661827850
Gene: BBS5 HGNC NCBI

Linked Data

gnomAD v4: 2-169487616-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169487616C>A , CM000664.2:g.169487616C>A GRCh38
NC_000002.11:g.170344126C>A , CM000664.1:g.170344126C>A GRCh37
NC_000002.10:g.170052372C>A NCBI36
NG_011567.1:g.13121C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.209-190C>A MANE Select ENSP00000295240.3:n.209-190C>A
ENST00000295240.7:c.209-190C>A ENSP00000295240.3:n.209-190C>A
ENST00000392663.6:c.209-190C>A ENSP00000376431.2:n.209-190C>A
ENST00000443151.1:c.143-371C>A ENSP00000406182.1:n.143-371C>A
ENST00000513963.1:c.209-190C>A ENSP00000424363.1:n.209-190C>A
NM_152384.2:c.209-190C>A NP_689597.1:n.209-190C>A
NM_152384.3:c.209-190C>A MANE Select NP_689597.1:n.209-190C>A
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