Canonical Allele Identifier: CA2792483161
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66526841_66526846del , CM000673.2:g.66526841_66526846del GRCh38
NC_000011.9:g.66294312_66294317del , CM000673.1:g.66294312_66294317del GRCh37
NC_000011.8:g.66050888_66050893del NCBI36
NG_009093.1:g.21194_21199del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.1339+34_1339+39del (BBS1) MANE Select ENSP00000317469.7:n.1339+34_1339+39del
ENST00000318312.11:c.1339+34_1339+39del (BBS1) ENSP00000317469.7:n.1339+34_1339+39del
ENST00000393994.4:c.952+34_952+39del (BBS1) ENSP00000377563.2:n.952+34_952+39del
ENST00000419755.3:c.1450+34_1450+39del ENSP00000398526.3:n.1450+34_1450+39del
ENST00000455748.6:c.1048+34_1048+39del (BBS1) ENSP00000405764.2:n.1048+34_1048+39del
ENST00000526760.5:c.*1046+34_*1046+39del (BBS1) ENSP00000432140.1:n.*1046+34_*1046+39del
ENST00000526986.5:c.*21+93_*21+98del (ZDHHC24) ENSP00000431321.1:n.*21+93_*21+98del
ENST00000527959.1:n.517_522del (BBS1)
ENST00000529766.5:n.1380_1385del (BBS1)
ENST00000529955.5:n.1310+34_1310+39del (BBS1)
ENST00000534073.5:c.*21+93_*21+98del (ZDHHC24) ENSP00000436503.1:n.*21+93_*21+98del
ENST00000630659.2:c.*1046+34_*1046+39del (BBS1) ENSP00000486455.1:n.*1046+34_*1046+39del
NM_024649.4:c.1339+34_1339+39del (BBS1) NP_078925.3:n.1339+34_1339+39del
XM_005273874.3:c.*21+93_*21+98del (ZDHHC24) XP_005273931.1:n.*21+93_*21+98del
XM_011544894.1:c.*21+93_*21+98del (ZDHHC24) XP_011543196.1:n.*21+93_*21+98del
XM_011544895.1:c.560-2567_560-2562del (ZDHHC24) XP_011543197.1:n.560-2567_560-2562del
XR_949860.1:n.686+93_686+98del (ZDHHC24)
NM_001348571.1:c.*21+93_*21+98del (ZDHHC24) NP_001335500.1:n.*21+93_*21+98del
XM_005273874.4:c.*21+93_*21+98del (ZDHHC24) XP_005273931.1:n.*21+93_*21+98del
XM_011544894.2:c.*21+93_*21+98del (ZDHHC24) XP_011543196.1:n.*21+93_*21+98del
XR_001747823.2:n.741-2567_741-2562del (ZDHHC24)
XR_949860.3:n.811+93_811+98del (ZDHHC24)
NM_024649.5:c.1339+34_1339+39del (BBS1) MANE Select NP_078925.3:n.1339+34_1339+39del
NM_001348571.2:c.*21+93_*21+98del (ZDHHC24) NP_001335500.1:n.*21+93_*21+98del