Canonical Allele Identifier: CA2792483188

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526877_66526878insAGT , CM000673.2:g.66526877_66526878insAGT	GRCh38
NC_000011.9:g.66294348_66294349insAGT , CM000673.1:g.66294348_66294349insAGT	GRCh37
NC_000011.8:g.66050924_66050925insAGT	NCBI36
NG_009093.1:g.21230_21231insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+70_1339+71insAGT (BBS1) MANE Select	ENSP00000317469.7:n.1339+70_1339+71insAGT
ENST00000318312.11:c.1339+70_1339+71insAGT (BBS1)	ENSP00000317469.7:n.1339+70_1339+71insAGT
ENST00000393994.4:c.952+70_952+71insAGT (BBS1)	ENSP00000377563.2:n.952+70_952+71insAGT
ENST00000419755.3:c.1450+70_1450+71insAGT	ENSP00000398526.3:n.1450+70_1450+71insAGT
ENST00000455748.6:c.1048+70_1048+71insAGT (BBS1)	ENSP00000405764.2:n.1048+70_1048+71insAGT
ENST00000526760.5:c.*1046+70_*1046+71insAGT (BBS1)	ENSP00000432140.1:n.*1046+70_*1046+71insAGT
ENST00000526986.5:c.*21+58_*21+59insACT (ZDHHC24)	ENSP00000431321.1:n.*21+58_*21+59insACT
ENST00000527959.1:n.553_554insAGT (BBS1)
ENST00000529766.5:n.1416_1417insAGT (BBS1)
ENST00000529955.5:n.1310+70_1310+71insAGT (BBS1)
ENST00000534073.5:c.*21+58_*21+59insACT (ZDHHC24)	ENSP00000436503.1:n.*21+58_*21+59insACT
ENST00000630659.2:c.*1046+70_*1046+71insAGT (BBS1)	ENSP00000486455.1:n.*1046+70_*1046+71insAGT
NM_024649.4:c.1339+70_1339+71insAGT (BBS1)	NP_078925.3:n.1339+70_1339+71insAGT
XM_005273874.3:c.*21+58_*21+59insACT (ZDHHC24)	XP_005273931.1:n.*21+58_*21+59insACT
XM_011544894.1:c.*21+58_*21+59insACT (ZDHHC24)	XP_011543196.1:n.*21+58_*21+59insACT
XM_011544895.1:c.560-2602_560-2601insACT (ZDHHC24)	XP_011543197.1:n.560-2602_560-2601insACT
XR_949860.1:n.686+58_686+59insACT (ZDHHC24)
NM_001348571.1:c.*21+58_*21+59insACT (ZDHHC24)	NP_001335500.1:n.*21+58_*21+59insACT
XM_005273874.4:c.*21+58_*21+59insACT (ZDHHC24)	XP_005273931.1:n.*21+58_*21+59insACT
XM_011544894.2:c.*21+58_*21+59insACT (ZDHHC24)	XP_011543196.1:n.*21+58_*21+59insACT
XR_001747823.2:n.741-2602_741-2601insACT (ZDHHC24)
XR_949860.3:n.811+58_811+59insACT (ZDHHC24)
NM_024649.5:c.1339+70_1339+71insAGT (BBS1) MANE Select	NP_078925.3:n.1339+70_1339+71insAGT
NM_001348571.2:c.*21+58_*21+59insACT (ZDHHC24)	NP_001335500.1:n.*21+58_*21+59insACT