Canonical Allele Identifier: CA1306470953
Gene: BBS5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492803_169492807delinsTAGTA , CM000664.2:g.169492803_169492807delinsTAGTA GRCh38
NC_000002.11:g.170349313_170349317delinsTAGTA , CM000664.1:g.170349313_170349317delinsTAGTA GRCh37
NC_000002.10:g.170057559_170057563delinsTAGTA NCBI36
NG_011567.1:g.18308_18312delinsTAGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.387-71_387-67delinsTAGTA MANE Select ENSP00000295240.3:n.387-71_387-67delinsTA...
ENST00000295240.7:c.387-71_387-67delinsTAGTA ENSP00000295240.3:n.387-71_387-67delinsTA...
ENST00000392663.6:c.387-71_387-67delinsTAGTA ENSP00000376431.2:n.387-71_387-67delinsTA...
ENST00000443151.1:c.*109-71_*109-67delinsTAGTA ENSP00000406182.1:n.*109-71_*109-67delins...
ENST00000475571.1:n.354-71_354-67delinsTAGTA
ENST00000513963.1:c.387-71_387-67delinsTAGTA ENSP00000424363.1:n.387-71_387-67delinsTA...
NM_152384.2:c.387-71_387-67delinsTAGTA NP_689597.1:n.387-71_387-67delinsTAGTA
NM_152384.3:c.387-71_387-67delinsTAGTA MANE Select NP_689597.1:n.387-71_387-67delinsTAGTA
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