Canonical Allele Identifier: CA2792483172

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526855_66526857del , CM000673.2:g.66526855_66526857del	GRCh38
NC_000011.9:g.66294326_66294328del , CM000673.1:g.66294326_66294328del	GRCh37
NC_000011.8:g.66050902_66050904del	NCBI36
NG_009093.1:g.21208_21210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+48_1339+50del (BBS1) MANE Select	ENSP00000317469.7:n.1339+48_1339+50del
ENST00000318312.11:c.1339+48_1339+50del (BBS1)	ENSP00000317469.7:n.1339+48_1339+50del
ENST00000393994.4:c.952+48_952+50del (BBS1)	ENSP00000377563.2:n.952+48_952+50del
ENST00000419755.3:c.1450+48_1450+50del	ENSP00000398526.3:n.1450+48_1450+50del
ENST00000455748.6:c.1048+48_1048+50del (BBS1)	ENSP00000405764.2:n.1048+48_1048+50del
ENST00000526760.5:c.*1046+48_*1046+50del (BBS1)	ENSP00000432140.1:n.*1046+48_*1046+50del
ENST00000526986.5:c.*21+80_*21+82del (ZDHHC24)	ENSP00000431321.1:n.*21+80_*21+82del
ENST00000527959.1:n.531_533del (BBS1)
ENST00000529766.5:n.1394_1396del (BBS1)
ENST00000529955.5:n.1310+48_1310+50del (BBS1)
ENST00000534073.5:c.*21+80_*21+82del (ZDHHC24)	ENSP00000436503.1:n.*21+80_*21+82del
ENST00000630659.2:c.*1046+48_*1046+50del (BBS1)	ENSP00000486455.1:n.*1046+48_*1046+50del
NM_024649.4:c.1339+48_1339+50del (BBS1)	NP_078925.3:n.1339+48_1339+50del
XM_005273874.3:c.*21+80_*21+82del (ZDHHC24)	XP_005273931.1:n.*21+80_*21+82del
XM_011544894.1:c.*21+80_*21+82del (ZDHHC24)	XP_011543196.1:n.*21+80_*21+82del
XM_011544895.1:c.560-2580_560-2578del (ZDHHC24)	XP_011543197.1:n.560-2580_560-2578del
XR_949860.1:n.686+80_686+82del (ZDHHC24)
NM_001348571.1:c.*21+80_*21+82del (ZDHHC24)	NP_001335500.1:n.*21+80_*21+82del
XM_005273874.4:c.*21+80_*21+82del (ZDHHC24)	XP_005273931.1:n.*21+80_*21+82del
XM_011544894.2:c.*21+80_*21+82del (ZDHHC24)	XP_011543196.1:n.*21+80_*21+82del
XR_001747823.2:n.741-2580_741-2578del (ZDHHC24)
XR_949860.3:n.811+80_811+82del (ZDHHC24)
NM_024649.5:c.1339+48_1339+50del (BBS1) MANE Select	NP_078925.3:n.1339+48_1339+50del
NM_001348571.2:c.*21+80_*21+82del (ZDHHC24)	NP_001335500.1:n.*21+80_*21+82del