Canonical Allele Identifier: CA2661828177
Gene: BBS5 HGNC NCBI

Linked Data

gnomAD v4: 2-169492905-TTTAAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492910_169492914del , CM000664.2:g.169492910_169492914del GRCh38
NC_000002.11:g.170349420_170349424del , CM000664.1:g.170349420_170349424del GRCh37
NC_000002.10:g.170057666_170057670del NCBI36
NG_011567.1:g.18415_18419del

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.423_427del MANE Select ENSP00000295240.3:p.Leu142LysfsTer19
ENST00000295240.7:c.423_427del ENSP00000295240.3:p.Leu142LysfsTer19
ENST00000392663.6:c.423_427del ENSP00000376431.2:p.Leu142LysfsTer19
ENST00000443151.1:c.*145_*149del ENSP00000406182.1:n.*145_*149del
ENST00000475571.1:n.390_394del
ENST00000513963.1:c.423_427del ENSP00000424363.1:p.Leu142LysfsTer19
NM_152384.2:c.423_427del NP_689597.1:p.Leu142LysfsTer19
NM_152384.3:c.423_427del MANE Select NP_689597.1:p.Leu142LysfsTer19
Search 100 bp 5'
Search 100 bp 3'