Canonical Allele Identifier: CA1306470967
Gene: BBS5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492840_169492841delinsGT , CM000664.2:g.169492840_169492841delinsGT GRCh38
NC_000002.11:g.170349350_170349351delinsGT , CM000664.1:g.170349350_170349351delinsGT GRCh37
NC_000002.10:g.170057596_170057597delinsGT NCBI36
NG_011567.1:g.18345_18346delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.387-34_387-33delinsGT MANE Select ENSP00000295240.3:n.387-34_387-33delinsGT...
ENST00000295240.7:c.387-34_387-33delinsGT ENSP00000295240.3:n.387-34_387-33delinsGT...
ENST00000392663.6:c.387-34_387-33delinsGT ENSP00000376431.2:n.387-34_387-33delinsGT...
ENST00000443151.1:c.*109-34_*109-33delinsGT ENSP00000406182.1:n.*109-34_*109-33delins...
ENST00000475571.1:n.354-34_354-33delinsGT
ENST00000513963.1:c.387-34_387-33delinsGT ENSP00000424363.1:n.387-34_387-33delinsGT...
NM_152384.2:c.387-34_387-33delinsGT NP_689597.1:n.387-34_387-33delinsGT
NM_152384.3:c.387-34_387-33delinsGT MANE Select NP_689597.1:n.387-34_387-33delinsGT
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