Canonical Allele Identifier: CA2580084543

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 1724447
• ClinVar RCV Id: RCV002309715

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523781del , CM000673.2:g.66523781del	GRCh38
NC_000011.9:g.66291252del , CM000673.1:g.66291252del	GRCh37
NC_000011.8:g.66047828del	NCBI36
NG_009093.1:g.18134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1009del (BBS1) MANE Select	ENSP00000317469.7:p.Glu337SerfsTer?
ENST00000318312.11:c.1009del (BBS1)	ENSP00000317469.7:p.Glu337SerfsTer?
ENST00000393994.4:c.724-2342del (BBS1)	ENSP00000377563.2:n.724-2342del
ENST00000419755.3:c.1120del	ENSP00000398526.3:p.Glu374SerfsTer?
ENST00000455748.6:c.718del (BBS1)	ENSP00000405764.2:p.Glu240SerfsTer?
ENST00000526760.5:c.*716del (BBS1)	ENSP00000432140.1:n.*716del
ENST00000526986.5:c.*22-2314del (ZDHHC24)	ENSP00000431321.1:n.*22-2314del
ENST00000527959.1:n.153del (BBS1)
ENST00000529766.5:n.1016del (BBS1)
ENST00000529895.1:n.458del (BBS1)
ENST00000529955.5:n.980del (BBS1)
ENST00000532908.5:c.*669del (BBS1)	ENSP00000431866.1:n.*669del
ENST00000534073.5:c.*143+375del (ZDHHC24)	ENSP00000436503.1:n.*143+375del
ENST00000630659.2:c.*716del (BBS1)	ENSP00000486455.1:n.*716del
NM_024649.4:c.1009del (BBS1)	NP_078925.3:p.Glu337SerfsTer?
XM_005273874.3:c.*22-2314del (ZDHHC24)	XP_005273931.1:n.*22-2314del
XR_949860.1:n.808+375del (ZDHHC24)
NM_001348571.1:c.*22-2314del (ZDHHC24)	NP_001335500.1:n.*22-2314del
XM_005273874.4:c.*22-2314del (ZDHHC24)	XP_005273931.1:n.*22-2314del
XR_001747823.2:n.862+375del (ZDHHC24)
XR_949860.3:n.933+375del (ZDHHC24)
NM_024649.5:c.1009del (BBS1) MANE Select	NP_078925.3:p.Glu337SerfsTer?
NM_001348571.2:c.*22-2314del (ZDHHC24)	NP_001335500.1:n.*22-2314del