Canonical Allele Identifier: CA2792483189

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526878_66526879insACA , CM000673.2:g.66526878_66526879insACA	GRCh38
NC_000011.9:g.66294349_66294350insACA , CM000673.1:g.66294349_66294350insACA	GRCh37
NC_000011.8:g.66050925_66050926insACA	NCBI36
NG_009093.1:g.21231_21232insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+71_1339+72insACA (BBS1) MANE Select	ENSP00000317469.7:n.1339+71_1339+72insACA
ENST00000318312.11:c.1339+71_1339+72insACA (BBS1)	ENSP00000317469.7:n.1339+71_1339+72insACA
ENST00000393994.4:c.952+71_952+72insACA (BBS1)	ENSP00000377563.2:n.952+71_952+72insACA
ENST00000419755.3:c.1450+71_1450+72insACA	ENSP00000398526.3:n.1450+71_1450+72insACA
ENST00000455748.6:c.1048+71_1048+72insACA (BBS1)	ENSP00000405764.2:n.1048+71_1048+72insACA
ENST00000526760.5:c.*1046+71_*1046+72insACA (BBS1)	ENSP00000432140.1:n.*1046+71_*1046+72insACA
ENST00000526986.5:c.*21+57_*21+58insTGT (ZDHHC24)	ENSP00000431321.1:n.*21+57_*21+58insTGT
ENST00000527959.1:n.554_555insACA (BBS1)
ENST00000529766.5:n.1417_1418insACA (BBS1)
ENST00000529955.5:n.1310+71_1310+72insACA (BBS1)
ENST00000534073.5:c.*21+57_*21+58insTGT (ZDHHC24)	ENSP00000436503.1:n.*21+57_*21+58insTGT
ENST00000630659.2:c.*1046+71_*1046+72insACA (BBS1)	ENSP00000486455.1:n.*1046+71_*1046+72insACA
NM_024649.4:c.1339+71_1339+72insACA (BBS1)	NP_078925.3:n.1339+71_1339+72insACA
XM_005273874.3:c.*21+57_*21+58insTGT (ZDHHC24)	XP_005273931.1:n.*21+57_*21+58insTGT
XM_011544894.1:c.*21+57_*21+58insTGT (ZDHHC24)	XP_011543196.1:n.*21+57_*21+58insTGT
XM_011544895.1:c.560-2603_560-2602insTGT (ZDHHC24)	XP_011543197.1:n.560-2603_560-2602insTGT
XR_949860.1:n.686+57_686+58insTGT (ZDHHC24)
NM_001348571.1:c.*21+57_*21+58insTGT (ZDHHC24)	NP_001335500.1:n.*21+57_*21+58insTGT
XM_005273874.4:c.*21+57_*21+58insTGT (ZDHHC24)	XP_005273931.1:n.*21+57_*21+58insTGT
XM_011544894.2:c.*21+57_*21+58insTGT (ZDHHC24)	XP_011543196.1:n.*21+57_*21+58insTGT
XR_001747823.2:n.741-2603_741-2602insTGT (ZDHHC24)
XR_949860.3:n.811+57_811+58insTGT (ZDHHC24)
NM_024649.5:c.1339+71_1339+72insACA (BBS1) MANE Select	NP_078925.3:n.1339+71_1339+72insACA
NM_001348571.2:c.*21+57_*21+58insTGT (ZDHHC24)	NP_001335500.1:n.*21+57_*21+58insTGT