Canonical Allele Identifier: CA2792483166

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526849_66526855del , CM000673.2:g.66526849_66526855del	GRCh38
NC_000011.9:g.66294320_66294326del , CM000673.1:g.66294320_66294326del	GRCh37
NC_000011.8:g.66050896_66050902del	NCBI36
NG_009093.1:g.21202_21208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+42_1339+48del (BBS1) MANE Select	ENSP00000317469.7:n.1339+42_1339+48del
ENST00000318312.11:c.1339+42_1339+48del (BBS1)	ENSP00000317469.7:n.1339+42_1339+48del
ENST00000393994.4:c.952+42_952+48del (BBS1)	ENSP00000377563.2:n.952+42_952+48del
ENST00000419755.3:c.1450+42_1450+48del	ENSP00000398526.3:n.1450+42_1450+48del
ENST00000455748.6:c.1048+42_1048+48del (BBS1)	ENSP00000405764.2:n.1048+42_1048+48del
ENST00000526760.5:c.*1046+42_*1046+48del (BBS1)	ENSP00000432140.1:n.*1046+42_*1046+48del
ENST00000526986.5:c.*21+81_*21+87del (ZDHHC24)	ENSP00000431321.1:n.*21+81_*21+87del
ENST00000527959.1:n.525_531del (BBS1)
ENST00000529766.5:n.1388_1394del (BBS1)
ENST00000529955.5:n.1310+42_1310+48del (BBS1)
ENST00000534073.5:c.*21+81_*21+87del (ZDHHC24)	ENSP00000436503.1:n.*21+81_*21+87del
ENST00000630659.2:c.*1046+42_*1046+48del (BBS1)	ENSP00000486455.1:n.*1046+42_*1046+48del
NM_024649.4:c.1339+42_1339+48del (BBS1)	NP_078925.3:n.1339+42_1339+48del
XM_005273874.3:c.*21+81_*21+87del (ZDHHC24)	XP_005273931.1:n.*21+81_*21+87del
XM_011544894.1:c.*21+81_*21+87del (ZDHHC24)	XP_011543196.1:n.*21+81_*21+87del
XM_011544895.1:c.560-2579_560-2573del (ZDHHC24)	XP_011543197.1:n.560-2579_560-2573del
XR_949860.1:n.686+81_686+87del (ZDHHC24)
NM_001348571.1:c.*21+81_*21+87del (ZDHHC24)	NP_001335500.1:n.*21+81_*21+87del
XM_005273874.4:c.*21+81_*21+87del (ZDHHC24)	XP_005273931.1:n.*21+81_*21+87del
XM_011544894.2:c.*21+81_*21+87del (ZDHHC24)	XP_011543196.1:n.*21+81_*21+87del
XR_001747823.2:n.741-2579_741-2573del (ZDHHC24)
XR_949860.3:n.811+81_811+87del (ZDHHC24)
NM_024649.5:c.1339+42_1339+48del (BBS1) MANE Select	NP_078925.3:n.1339+42_1339+48del
NM_001348571.2:c.*21+81_*21+87del (ZDHHC24)	NP_001335500.1:n.*21+81_*21+87del