Canonical Allele Identifier: CA1979712067

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526900_66526903delinsGGGA , CM000673.2:g.66526900_66526903delinsGGGA	GRCh38
NC_000011.9:g.66294371_66294374delinsGGGA , CM000673.1:g.66294371_66294374delinsGGGA	GRCh37
NC_000011.8:g.66050947_66050950delinsGGGA	NCBI36
NG_009093.1:g.21253_21256delinsGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+93_1339+96delinsGGGA (BBS1) MANE Select	ENSP00000317469.7:n.1339+93_1339+96delinsGGGA
ENST00000318312.11:c.1339+93_1339+96delinsGGGA (BBS1)	ENSP00000317469.7:n.1339+93_1339+96delinsGGGA
ENST00000393994.4:c.952+93_952+96delinsGGGA (BBS1)	ENSP00000377563.2:n.952+93_952+96delinsGGGA
ENST00000419755.3:c.1450+93_1450+96delinsGGGA	ENSP00000398526.3:n.1450+93_1450+96delinsGGGA
ENST00000455748.6:c.1048+93_1048+96delinsGGGA (BBS1)	ENSP00000405764.2:n.1048+93_1048+96delinsGGGA
ENST00000526760.5:c.*1046+93_*1046+96delinsGGGA (BBS1)	ENSP00000432140.1:n.*1046+93_*1046+96delinsGGGA
ENST00000526986.5:c.*21+33_*21+36delinsTCCC (ZDHHC24)	ENSP00000431321.1:n.*21+33_*21+36delinsTCCC
ENST00000527959.1:n.576_579delinsGGGA (BBS1)
ENST00000529766.5:n.1439_1442delinsGGGA (BBS1)
ENST00000529955.5:n.1310+93_1310+96delinsGGGA (BBS1)
ENST00000534073.5:c.*21+33_*21+36delinsTCCC (ZDHHC24)	ENSP00000436503.1:n.*21+33_*21+36delinsTCCC
ENST00000630659.2:c.*1046+93_*1046+96delinsGGGA (BBS1)	ENSP00000486455.1:n.*1046+93_*1046+96delinsGGGA
NM_024649.4:c.1339+93_1339+96delinsGGGA (BBS1)	NP_078925.3:n.1339+93_1339+96delinsGGGA
XM_005273874.3:c.*21+33_*21+36delinsTCCC (ZDHHC24)	XP_005273931.1:n.*21+33_*21+36delinsTCCC
XM_011544894.1:c.*21+33_*21+36delinsTCCC (ZDHHC24)	XP_011543196.1:n.*21+33_*21+36delinsTCCC
XM_011544895.1:c.560-2627_560-2624delinsTCCC (ZDHHC24)	XP_011543197.1:n.560-2627_560-2624delinsTCCC
XR_949860.1:n.686+33_686+36delinsTCCC (ZDHHC24)
NM_001348571.1:c.*21+33_*21+36delinsTCCC (ZDHHC24)	NP_001335500.1:n.*21+33_*21+36delinsTCCC
XM_005273874.4:c.*21+33_*21+36delinsTCCC (ZDHHC24)	XP_005273931.1:n.*21+33_*21+36delinsTCCC
XM_011544894.2:c.*21+33_*21+36delinsTCCC (ZDHHC24)	XP_011543196.1:n.*21+33_*21+36delinsTCCC
XR_001747823.2:n.741-2627_741-2624delinsTCCC (ZDHHC24)
XR_949860.3:n.811+33_811+36delinsTCCC (ZDHHC24)
NM_024649.5:c.1339+93_1339+96delinsGGGA (BBS1) MANE Select	NP_078925.3:n.1339+93_1339+96delinsGGGA
NM_001348571.2:c.*21+33_*21+36delinsTCCC (ZDHHC24)	NP_001335500.1:n.*21+33_*21+36delinsTCCC