Canonical Allele Identifier: CA2739270566

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 2849403
• ClinVar RCV Id: RCV003635246

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66529911dup , CM000673.2:g.66529911dup	GRCh38
NC_000011.9:g.66297382dup , CM000673.1:g.66297382dup	GRCh37
NC_000011.8:g.66053958dup	NCBI36
NG_009093.1:g.24264dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.1432dup (BBS1) MANE Select	ENSP00000317469.7:p.Leu478ProfsTer23
ENST00000318312.11:c.1432dup (BBS1)	ENSP00000317469.7:p.Leu478ProfsTer23
ENST00000393994.4:c.1045dup (BBS1)	ENSP00000377563.2:p.Leu349ProfsTer23
ENST00000419755.3:c.1543dup	ENSP00000398526.3:p.Leu515ProfsTer23
ENST00000455748.6:c.1141dup (BBS1)	ENSP00000405764.2:p.Leu381ProfsTer23
ENST00000526760.5:c.*1139dup (BBS1)	ENSP00000432140.1:n.*1139dup
ENST00000526986.5:c.560-419dup (ZDHHC24)	ENSP00000431321.1:n.560-419dup
ENST00000529955.5:n.1403dup (BBS1)
ENST00000534073.5:c.560-2901dup (ZDHHC24)	ENSP00000436503.1:n.560-2901dup
ENST00000630659.2:c.*1139dup (BBS1)	ENSP00000486455.1:n.*1139dup
NM_024649.4:c.1432dup (BBS1)	NP_078925.3:p.Leu478ProfsTer23
XM_005273874.3:c.560-2901dup (ZDHHC24)	XP_005273931.1:n.560-2901dup
XM_011544891.1:c.560-419dup (ZDHHC24)	XP_011543193.1:n.560-419dup
XM_011544894.1:c.560-2901dup (ZDHHC24)	XP_011543196.1:n.560-2901dup
XM_011544895.1:c.560-5631dup (ZDHHC24)	XP_011543197.1:n.560-5631dup
XR_949860.1:n.616-2901dup (ZDHHC24)
NM_001348571.1:c.560-419dup (ZDHHC24)	NP_001335500.1:n.560-419dup
XM_005273874.4:c.560-2901dup (ZDHHC24)	XP_005273931.1:n.560-2901dup
XM_011544894.2:c.560-2901dup (ZDHHC24)	XP_011543196.1:n.560-2901dup
XR_001747823.2:n.741-5631dup (ZDHHC24)
XR_949860.3:n.741-2901dup (ZDHHC24)
NM_024649.5:c.1432dup (BBS1) MANE Select	NP_078925.3:p.Leu478ProfsTer23
NM_001348571.2:c.560-419dup (ZDHHC24)	NP_001335500.1:n.560-419dup