Canonical Allele Identifier: CA1306470999
Gene: BBS5 HGNC NCBI

Linked Data

dbSNP Id: rs1683625124
gnomAD v4: 2-169492912-TAAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169492916_169492918del , CM000664.2:g.169492916_169492918del GRCh38
NC_000002.11:g.170349426_170349428del , CM000664.1:g.170349426_170349428del GRCh37
NC_000002.10:g.170057672_170057674del NCBI36
NG_011567.1:g.18421_18423del

Transcript Alleles

HGVS Amino-acid change
ENST00000295240.8:c.429_431del MANE Select ENSP00000295240.3:p.Arg143del
ENST00000295240.7:c.429_431del ENSP00000295240.3:p.Arg143del
ENST00000392663.6:c.429_431del ENSP00000376431.2:p.Arg143del
ENST00000443151.1:c.*151_*153del ENSP00000406182.1:n.*151_*153del
ENST00000475571.1:n.396_398del
ENST00000513963.1:c.429_431del ENSP00000424363.1:p.Arg143del
NM_152384.2:c.429_431del NP_689597.1:p.Arg143del
NM_152384.3:c.429_431del MANE Select NP_689597.1:p.Arg143del
Search 100 bp 5'
Search 100 bp 3'