Canonical Allele Identifier: CA236419
Gene: BBS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 191307
ClinVar RCV Id: RCV000171499
dbSNP Id: rs786205637
gnomAD v4: 2-169504506-CAGA-C
MyVariant Identifiers: chr2:g.170361017_170361019del (hg19) chr2:g.169504507_169504509del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169504511_169504513del , CM000664.2:g.169504511_169504513del GRCh38
NC_000002.11:g.170361021_170361023del , CM000664.1:g.170361021_170361023del GRCh37
NC_000002.10:g.170069267_170069269del NCBI36
NG_011567.1:g.30016_30018del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295240.8:c.955_957del MANE Select ENSP00000295240.3:p.Glu319del
ENST00000295240.7:c.955_957del ENSP00000295240.3:p.Glu319del
ENST00000392663.6:c.892_894del ENSP00000376431.2:p.Glu298del
ENST00000472667.1:n.726_728del
ENST00000513963.1:c.924+185_924+187del ENSP00000424363.1:n.924+185_924+187del
NM_152384.2:c.955_957del NP_689597.1:p.Glu319del
NM_152384.3:c.955_957del MANE Select NP_689597.1:p.Glu319del
Search 100 bp 5'
Search 100 bp 3'