Canonical Allele Identifier: CA2792483174

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526861_66526862insACT , CM000673.2:g.66526861_66526862insACT	GRCh38
NC_000011.9:g.66294332_66294333insACT , CM000673.1:g.66294332_66294333insACT	GRCh37
NC_000011.8:g.66050908_66050909insACT	NCBI36
NG_009093.1:g.21214_21215insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+54_1339+55insACT (BBS1) MANE Select	ENSP00000317469.7:n.1339+54_1339+55insACT
ENST00000318312.11:c.1339+54_1339+55insACT (BBS1)	ENSP00000317469.7:n.1339+54_1339+55insACT
ENST00000393994.4:c.952+54_952+55insACT (BBS1)	ENSP00000377563.2:n.952+54_952+55insACT
ENST00000419755.3:c.1450+54_1450+55insACT	ENSP00000398526.3:n.1450+54_1450+55insACT
ENST00000455748.6:c.1048+54_1048+55insACT (BBS1)	ENSP00000405764.2:n.1048+54_1048+55insACT
ENST00000526760.5:c.*1046+54_*1046+55insACT (BBS1)	ENSP00000432140.1:n.*1046+54_*1046+55insACT
ENST00000526986.5:c.*21+74_*21+75insAGT (ZDHHC24)	ENSP00000431321.1:n.*21+74_*21+75insAGT
ENST00000527959.1:n.537_538insACT (BBS1)
ENST00000529766.5:n.1400_1401insACT (BBS1)
ENST00000529955.5:n.1310+54_1310+55insACT (BBS1)
ENST00000534073.5:c.*21+74_*21+75insAGT (ZDHHC24)	ENSP00000436503.1:n.*21+74_*21+75insAGT
ENST00000630659.2:c.*1046+54_*1046+55insACT (BBS1)	ENSP00000486455.1:n.*1046+54_*1046+55insACT
NM_024649.4:c.1339+54_1339+55insACT (BBS1)	NP_078925.3:n.1339+54_1339+55insACT
XM_005273874.3:c.*21+74_*21+75insAGT (ZDHHC24)	XP_005273931.1:n.*21+74_*21+75insAGT
XM_011544894.1:c.*21+74_*21+75insAGT (ZDHHC24)	XP_011543196.1:n.*21+74_*21+75insAGT
XM_011544895.1:c.560-2586_560-2585insAGT (ZDHHC24)	XP_011543197.1:n.560-2586_560-2585insAGT
XR_949860.1:n.686+74_686+75insAGT (ZDHHC24)
NM_001348571.1:c.*21+74_*21+75insAGT (ZDHHC24)	NP_001335500.1:n.*21+74_*21+75insAGT
XM_005273874.4:c.*21+74_*21+75insAGT (ZDHHC24)	XP_005273931.1:n.*21+74_*21+75insAGT
XM_011544894.2:c.*21+74_*21+75insAGT (ZDHHC24)	XP_011543196.1:n.*21+74_*21+75insAGT
XR_001747823.2:n.741-2586_741-2585insAGT (ZDHHC24)
XR_949860.3:n.811+74_811+75insAGT (ZDHHC24)
NM_024649.5:c.1339+54_1339+55insACT (BBS1) MANE Select	NP_078925.3:n.1339+54_1339+55insACT
NM_001348571.2:c.*21+74_*21+75insAGT (ZDHHC24)	NP_001335500.1:n.*21+74_*21+75insAGT