Canonical Allele Identifier: CA2792483182

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526872_66526873insAC , CM000673.2:g.66526872_66526873insAC	GRCh38
NC_000011.9:g.66294343_66294344insAC , CM000673.1:g.66294343_66294344insAC	GRCh37
NC_000011.8:g.66050919_66050920insAC	NCBI36
NG_009093.1:g.21225_21226insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+65_1339+66insAC (BBS1) MANE Select	ENSP00000317469.7:n.1339+65_1339+66insAC
ENST00000318312.11:c.1339+65_1339+66insAC (BBS1)	ENSP00000317469.7:n.1339+65_1339+66insAC
ENST00000393994.4:c.952+65_952+66insAC (BBS1)	ENSP00000377563.2:n.952+65_952+66insAC
ENST00000419755.3:c.1450+65_1450+66insAC	ENSP00000398526.3:n.1450+65_1450+66insAC
ENST00000455748.6:c.1048+65_1048+66insAC (BBS1)	ENSP00000405764.2:n.1048+65_1048+66insAC
ENST00000526760.5:c.*1046+65_*1046+66insAC (BBS1)	ENSP00000432140.1:n.*1046+65_*1046+66insAC
ENST00000526986.5:c.*21+63_*21+64insGT (ZDHHC24)	ENSP00000431321.1:n.*21+63_*21+64insGT
ENST00000527959.1:n.548_549insAC (BBS1)
ENST00000529766.5:n.1411_1412insAC (BBS1)
ENST00000529955.5:n.1310+65_1310+66insAC (BBS1)
ENST00000534073.5:c.*21+63_*21+64insGT (ZDHHC24)	ENSP00000436503.1:n.*21+63_*21+64insGT
ENST00000630659.2:c.*1046+65_*1046+66insAC (BBS1)	ENSP00000486455.1:n.*1046+65_*1046+66insAC
NM_024649.4:c.1339+65_1339+66insAC (BBS1)	NP_078925.3:n.1339+65_1339+66insAC
XM_005273874.3:c.*21+63_*21+64insGT (ZDHHC24)	XP_005273931.1:n.*21+63_*21+64insGT
XM_011544894.1:c.*21+63_*21+64insGT (ZDHHC24)	XP_011543196.1:n.*21+63_*21+64insGT
XM_011544895.1:c.560-2597_560-2596insGT (ZDHHC24)	XP_011543197.1:n.560-2597_560-2596insGT
XR_949860.1:n.686+63_686+64insGT (ZDHHC24)
NM_001348571.1:c.*21+63_*21+64insGT (ZDHHC24)	NP_001335500.1:n.*21+63_*21+64insGT
XM_005273874.4:c.*21+63_*21+64insGT (ZDHHC24)	XP_005273931.1:n.*21+63_*21+64insGT
XM_011544894.2:c.*21+63_*21+64insGT (ZDHHC24)	XP_011543196.1:n.*21+63_*21+64insGT
XR_001747823.2:n.741-2597_741-2596insGT (ZDHHC24)
XR_949860.3:n.811+63_811+64insGT (ZDHHC24)
NM_024649.5:c.1339+65_1339+66insAC (BBS1) MANE Select	NP_078925.3:n.1339+65_1339+66insAC
NM_001348571.2:c.*21+63_*21+64insGT (ZDHHC24)	NP_001335500.1:n.*21+63_*21+64insGT