Canonical Allele Identifier: CA1979711961

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526768_66526779delinsTACGTGGATCAG , CM000673.2:g.66526768_66526779delinsTACGTGGATCAG	GRCh38
NC_000011.9:g.66294239_66294250delinsTACGTGGATCAG , CM000673.1:g.66294239_66294250delinsTACGTGGATCAG	GRCh37
NC_000011.8:g.66050815_66050826delinsTACGTGGATCAG	NCBI36
NG_009093.1:g.21121_21132delinsTACGTGGATCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1300_1311delinsTACGTGGATCAG (BBS1) MANE Select	ENSP00000317469.7:p.Tyr434=
ENST00000318312.11:c.1300_1311delinsTACGTGGATCAG (BBS1)	ENSP00000317469.7:p.Tyr434=
ENST00000393994.4:c.913_924delinsTACGTGGATCAG (BBS1)	ENSP00000377563.2:p.Tyr305=
ENST00000419755.3:c.1411_1422delinsTACGTGGATCAG	ENSP00000398526.3:p.Tyr471=
ENST00000455748.6:c.1009_1020delinsTACGTGGATCAG (BBS1)	ENSP00000405764.2:p.Tyr337=
ENST00000526760.5:c.*1007_*1018delinsTACGTGGATCAG (BBS1)	ENSP00000432140.1:n.*1007_*1018delinsTACGTGGATCAG
ENST00000526986.5:c.*21+157_*21+168delinsCTGATCCACGTA (ZDHHC24)	ENSP00000431321.1:n.*21+157_*21+168delinsCTGATCCACGTA
ENST00000527959.1:n.444_455delinsTACGTGGATCAG (BBS1)
ENST00000529766.5:n.1307_1318delinsTACGTGGATCAG (BBS1)
ENST00000529955.5:n.1271_1282delinsTACGTGGATCAG (BBS1)
ENST00000534073.5:c.*21+157_*21+168delinsCTGATCCACGTA (ZDHHC24)	ENSP00000436503.1:n.*21+157_*21+168delinsCTGATCCACGTA
ENST00000630659.2:c.*1007_*1018delinsTACGTGGATCAG (BBS1)	ENSP00000486455.1:n.*1007_*1018delinsTACGTGGATCAG
NM_024649.4:c.1300_1311delinsTACGTGGATCAG (BBS1)	NP_078925.3:p.Tyr434=
XM_005273874.3:c.*21+157_*21+168delinsCTGATCCACGTA (ZDHHC24)	XP_005273931.1:n.*21+157_*21+168delinsCTGATCCACGTA
XM_011544894.1:c.*21+157_*21+168delinsCTGATCCACGTA (ZDHHC24)	XP_011543196.1:n.*21+157_*21+168delinsCTGATCCACGTA
XM_011544895.1:c.560-2503_560-2492delinsCTGATCCACGTA (ZDHHC24)	XP_011543197.1:n.560-2503_560-2492delinsCTGATCCACGTA
XR_949860.1:n.686+157_686+168delinsCTGATCCACGTA (ZDHHC24)
NM_001348571.1:c.*21+157_*21+168delinsCTGATCCACGTA (ZDHHC24)	NP_001335500.1:n.*21+157_*21+168delinsCTGATCCACGTA
XM_005273874.4:c.*21+157_*21+168delinsCTGATCCACGTA (ZDHHC24)	XP_005273931.1:n.*21+157_*21+168delinsCTGATCCACGTA
XM_011544894.2:c.*21+157_*21+168delinsCTGATCCACGTA (ZDHHC24)	XP_011543196.1:n.*21+157_*21+168delinsCTGATCCACGTA
XR_001747823.2:n.741-2503_741-2492delinsCTGATCCACGTA (ZDHHC24)
XR_949860.3:n.811+157_811+168delinsCTGATCCACGTA (ZDHHC24)
NM_024649.5:c.1300_1311delinsTACGTGGATCAG (BBS1) MANE Select	NP_078925.3:p.Tyr434=
NM_001348571.2:c.*21+157_*21+168delinsCTGATCCACGTA (ZDHHC24)	NP_001335500.1:n.*21+157_*21+168delinsCTGATCCACGTA