Canonical Allele Identifier: CA938983520

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs1856515373
• gnomAD v3: 11-66526681-AC-A
• gnomAD v4: 11-66526681-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526682del , CM000673.2:g.66526682del	GRCh38
NC_000011.9:g.66294153del , CM000673.1:g.66294153del	GRCh37
NC_000011.8:g.66050729del	NCBI36
NG_009093.1:g.21035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1214del (BBS1) MANE Select	ENSP00000317469.7:p.Thr405LysfsTer5
ENST00000318312.11:c.1214del (BBS1)	ENSP00000317469.7:p.Thr405LysfsTer5
ENST00000393994.4:c.827del (BBS1)	ENSP00000377563.2:p.Thr276LysfsTer5
ENST00000419755.3:c.1325del	ENSP00000398526.3:p.Thr442LysfsTer5
ENST00000455748.6:c.923del (BBS1)	ENSP00000405764.2:p.Thr308LysfsTer5
ENST00000526760.5:c.*921del (BBS1)	ENSP00000432140.1:n.*921del
ENST00000526986.5:c.*21+254del (ZDHHC24)	ENSP00000431321.1:n.*21+254del
ENST00000527959.1:n.358del (BBS1)
ENST00000529766.5:n.1221del (BBS1)
ENST00000529955.5:n.1185del (BBS1)
ENST00000534073.5:c.*21+254del (ZDHHC24)	ENSP00000436503.1:n.*21+254del
ENST00000630659.2:c.*921del (BBS1)	ENSP00000486455.1:n.*921del
NM_024649.4:c.1214del (BBS1)	NP_078925.3:p.Thr405LysfsTer5
XM_005273874.3:c.*21+254del (ZDHHC24)	XP_005273931.1:n.*21+254del
XM_011544894.1:c.*21+254del (ZDHHC24)	XP_011543196.1:n.*21+254del
XM_011544895.1:c.560-2406del (ZDHHC24)	XP_011543197.1:n.560-2406del
XR_949860.1:n.686+254del (ZDHHC24)
NM_001348571.1:c.*21+254del (ZDHHC24)	NP_001335500.1:n.*21+254del
XM_005273874.4:c.*21+254del (ZDHHC24)	XP_005273931.1:n.*21+254del
XM_011544894.2:c.*21+254del (ZDHHC24)	XP_011543196.1:n.*21+254del
XR_001747823.2:n.741-2406del (ZDHHC24)
XR_949860.3:n.811+254del (ZDHHC24)
NM_024649.5:c.1214del (BBS1) MANE Select	NP_078925.3:p.Thr405LysfsTer5
NM_001348571.2:c.*21+254del (ZDHHC24)	NP_001335500.1:n.*21+254del