Canonical Allele Identifier: CA2792483165

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526845_66526846insA , CM000673.2:g.66526845_66526846insA	GRCh38
NC_000011.9:g.66294316_66294317insA , CM000673.1:g.66294316_66294317insA	GRCh37
NC_000011.8:g.66050892_66050893insA	NCBI36
NG_009093.1:g.21198_21199insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+38_1339+39insA (BBS1) MANE Select	ENSP00000317469.7:n.1339+38_1339+39insA
ENST00000318312.11:c.1339+38_1339+39insA (BBS1)	ENSP00000317469.7:n.1339+38_1339+39insA
ENST00000393994.4:c.952+38_952+39insA (BBS1)	ENSP00000377563.2:n.952+38_952+39insA
ENST00000419755.3:c.1450+38_1450+39insA	ENSP00000398526.3:n.1450+38_1450+39insA
ENST00000455748.6:c.1048+38_1048+39insA (BBS1)	ENSP00000405764.2:n.1048+38_1048+39insA
ENST00000526760.5:c.*1046+38_*1046+39insA (BBS1)	ENSP00000432140.1:n.*1046+38_*1046+39insA
ENST00000526986.5:c.*21+90_*21+91insT (ZDHHC24)	ENSP00000431321.1:n.*21+90_*21+91insT
ENST00000527959.1:n.521_522insA (BBS1)
ENST00000529766.5:n.1384_1385insA (BBS1)
ENST00000529955.5:n.1310+38_1310+39insA (BBS1)
ENST00000534073.5:c.*21+90_*21+91insT (ZDHHC24)	ENSP00000436503.1:n.*21+90_*21+91insT
ENST00000630659.2:c.*1046+38_*1046+39insA (BBS1)	ENSP00000486455.1:n.*1046+38_*1046+39insA
NM_024649.4:c.1339+38_1339+39insA (BBS1)	NP_078925.3:n.1339+38_1339+39insA
XM_005273874.3:c.*21+90_*21+91insT (ZDHHC24)	XP_005273931.1:n.*21+90_*21+91insT
XM_011544894.1:c.*21+90_*21+91insT (ZDHHC24)	XP_011543196.1:n.*21+90_*21+91insT
XM_011544895.1:c.560-2570_560-2569insT (ZDHHC24)	XP_011543197.1:n.560-2570_560-2569insT
XR_949860.1:n.686+90_686+91insT (ZDHHC24)
NM_001348571.1:c.*21+90_*21+91insT (ZDHHC24)	NP_001335500.1:n.*21+90_*21+91insT
XM_005273874.4:c.*21+90_*21+91insT (ZDHHC24)	XP_005273931.1:n.*21+90_*21+91insT
XM_011544894.2:c.*21+90_*21+91insT (ZDHHC24)	XP_011543196.1:n.*21+90_*21+91insT
XR_001747823.2:n.741-2570_741-2569insT (ZDHHC24)
XR_949860.3:n.811+90_811+91insT (ZDHHC24)
NM_024649.5:c.1339+38_1339+39insA (BBS1) MANE Select	NP_078925.3:n.1339+38_1339+39insA
NM_001348571.2:c.*21+90_*21+91insT (ZDHHC24)	NP_001335500.1:n.*21+90_*21+91insT