Canonical Allele Identifier: CA1139662038

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 966862
• ClinVar RCV Id: RCV001241641
• dbSNP Id: rs1856517666

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526703del , CM000673.2:g.66526703del	GRCh38
NC_000011.9:g.66294174del , CM000673.1:g.66294174del	GRCh37
NC_000011.8:g.66050750del	NCBI36
NG_009093.1:g.21056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1235del (BBS1) MANE Select	ENSP00000317469.7:p.Gly412GlufsTer12
ENST00000318312.11:c.1235del (BBS1)	ENSP00000317469.7:p.Gly412GlufsTer12
ENST00000393994.4:c.848del (BBS1)	ENSP00000377563.2:p.Gly283GlufsTer12
ENST00000419755.3:c.1346del	ENSP00000398526.3:p.Gly449GlufsTer12
ENST00000455748.6:c.944del (BBS1)	ENSP00000405764.2:p.Gly315GlufsTer12
ENST00000526760.5:c.*942del (BBS1)	ENSP00000432140.1:n.*942del
ENST00000526986.5:c.*21+234del (ZDHHC24)	ENSP00000431321.1:n.*21+234del
ENST00000527959.1:n.379del (BBS1)
ENST00000529766.5:n.1242del (BBS1)
ENST00000529955.5:n.1206del (BBS1)
ENST00000534073.5:c.*21+234del (ZDHHC24)	ENSP00000436503.1:n.*21+234del
ENST00000630659.2:c.*942del (BBS1)	ENSP00000486455.1:n.*942del
NM_024649.4:c.1235del (BBS1)	NP_078925.3:p.Gly412GlufsTer12
XM_005273874.3:c.*21+234del (ZDHHC24)	XP_005273931.1:n.*21+234del
XM_011544894.1:c.*21+234del (ZDHHC24)	XP_011543196.1:n.*21+234del
XM_011544895.1:c.560-2426del (ZDHHC24)	XP_011543197.1:n.560-2426del
XR_949860.1:n.686+234del (ZDHHC24)
NM_001348571.1:c.*21+234del (ZDHHC24)	NP_001335500.1:n.*21+234del
XM_005273874.4:c.*21+234del (ZDHHC24)	XP_005273931.1:n.*21+234del
XM_011544894.2:c.*21+234del (ZDHHC24)	XP_011543196.1:n.*21+234del
XR_001747823.2:n.741-2426del (ZDHHC24)
XR_949860.3:n.811+234del (ZDHHC24)
NM_024649.5:c.1235del (BBS1) MANE Select	NP_078925.3:p.Gly412GlufsTer12
NM_001348571.2:c.*21+234del (ZDHHC24)	NP_001335500.1:n.*21+234del