Canonical Allele Identifier: CA1306471297
Gene: BBS5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169493694G= , CM000664.2:g.169493694G= GRCh38
NC_000002.11:g.170350204G= , CM000664.1:g.170350204G= GRCh37
NC_000002.10:g.170058450G= NCBI36
NG_011567.1:g.19199G=

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.523-47G= MANE Select ENSP00000295240.3:n.523-47G=
ENST00000295240.7:c.523-47G= ENSP00000295240.3:n.523-47G=
ENST00000392663.6:c.523-47G= ENSP00000376431.2:n.523-47G=
ENST00000443151.1:c.*245-47G= ENSP00000406182.1:n.*245-47G=
ENST00000513963.1:c.523-47G= ENSP00000424363.1:n.523-47G=
NM_152384.2:c.523-47G= NP_689597.1:n.523-47G=
NM_152384.3:c.523-47G= MANE Select NP_689597.1:n.523-47G=
Search 100 bp 5'
Search 100 bp 3'