Canonical Allele Identifier: CA2580084547

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 1998644
• ClinVar RCV Id: RCV002796945

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523807_66523810del , CM000673.2:g.66523807_66523810del	GRCh38
NC_000011.9:g.66291278_66291281del , CM000673.1:g.66291278_66291281del	GRCh37
NC_000011.8:g.66047854_66047857del	NCBI36
NG_009093.1:g.18160_18163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1035_1038del (BBS1) MANE Select	ENSP00000317469.7:p.Val346TrpfsTer27
ENST00000318312.11:c.1035_1038del (BBS1)	ENSP00000317469.7:p.Val346TrpfsTer27
ENST00000393994.4:c.724-2316_724-2313del (BBS1)	ENSP00000377563.2:n.724-2316_724-2313del
ENST00000419755.3:c.1146_1149del	ENSP00000398526.3:p.Val383TrpfsTer27
ENST00000455748.6:c.744_747del (BBS1)	ENSP00000405764.2:p.Val249TrpfsTer27
ENST00000526760.5:c.*742_*745del (BBS1)	ENSP00000432140.1:n.*742_*745del
ENST00000526986.5:c.*22-2343_*22-2340del (ZDHHC24)	ENSP00000431321.1:n.*22-2343_*22-2340del
ENST00000527959.1:n.179_182del (BBS1)
ENST00000529766.5:n.1042_1045del (BBS1)
ENST00000529895.1:n.484_487del (BBS1)
ENST00000529955.5:n.1006_1009del (BBS1)
ENST00000532908.5:c.*695_*698del (BBS1)	ENSP00000431866.1:n.*695_*698del
ENST00000534073.5:c.*143+346_*143+349del (ZDHHC24)	ENSP00000436503.1:n.*143+346_*143+349del
ENST00000630659.2:c.*742_*745del (BBS1)	ENSP00000486455.1:n.*742_*745del
NM_024649.4:c.1035_1038del (BBS1)	NP_078925.3:p.Val346TrpfsTer27
XM_005273874.3:c.*22-2343_*22-2340del (ZDHHC24)	XP_005273931.1:n.*22-2343_*22-2340del
XR_949860.1:n.808+346_808+349del (ZDHHC24)
NM_001348571.1:c.*22-2343_*22-2340del (ZDHHC24)	NP_001335500.1:n.*22-2343_*22-2340del
XM_005273874.4:c.*22-2343_*22-2340del (ZDHHC24)	XP_005273931.1:n.*22-2343_*22-2340del
XR_001747823.2:n.862+346_862+349del (ZDHHC24)
XR_949860.3:n.933+346_933+349del (ZDHHC24)
NM_024649.5:c.1035_1038del (BBS1) MANE Select	NP_078925.3:p.Val346TrpfsTer27
NM_001348571.2:c.*22-2343_*22-2340del (ZDHHC24)	NP_001335500.1:n.*22-2343_*22-2340del