Canonical Allele Identifier: CA2792483190

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526880_66526881del , CM000673.2:g.66526880_66526881del	GRCh38
NC_000011.9:g.66294351_66294352del , CM000673.1:g.66294351_66294352del	GRCh37
NC_000011.8:g.66050927_66050928del	NCBI36
NG_009093.1:g.21233_21234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+73_1339+74del (BBS1) MANE Select	ENSP00000317469.7:n.1339+73_1339+74del
ENST00000318312.11:c.1339+73_1339+74del (BBS1)	ENSP00000317469.7:n.1339+73_1339+74del
ENST00000393994.4:c.952+73_952+74del (BBS1)	ENSP00000377563.2:n.952+73_952+74del
ENST00000419755.3:c.1450+73_1450+74del	ENSP00000398526.3:n.1450+73_1450+74del
ENST00000455748.6:c.1048+73_1048+74del (BBS1)	ENSP00000405764.2:n.1048+73_1048+74del
ENST00000526760.5:c.*1046+73_*1046+74del (BBS1)	ENSP00000432140.1:n.*1046+73_*1046+74del
ENST00000526986.5:c.*21+55_*21+56del (ZDHHC24)	ENSP00000431321.1:n.*21+55_*21+56del
ENST00000527959.1:n.556_557del (BBS1)
ENST00000529766.5:n.1419_1420del (BBS1)
ENST00000529955.5:n.1310+73_1310+74del (BBS1)
ENST00000534073.5:c.*21+55_*21+56del (ZDHHC24)	ENSP00000436503.1:n.*21+55_*21+56del
ENST00000630659.2:c.*1046+73_*1046+74del (BBS1)	ENSP00000486455.1:n.*1046+73_*1046+74del
NM_024649.4:c.1339+73_1339+74del (BBS1)	NP_078925.3:n.1339+73_1339+74del
XM_005273874.3:c.*21+55_*21+56del (ZDHHC24)	XP_005273931.1:n.*21+55_*21+56del
XM_011544894.1:c.*21+55_*21+56del (ZDHHC24)	XP_011543196.1:n.*21+55_*21+56del
XM_011544895.1:c.560-2605_560-2604del (ZDHHC24)	XP_011543197.1:n.560-2605_560-2604del
XR_949860.1:n.686+55_686+56del (ZDHHC24)
NM_001348571.1:c.*21+55_*21+56del (ZDHHC24)	NP_001335500.1:n.*21+55_*21+56del
XM_005273874.4:c.*21+55_*21+56del (ZDHHC24)	XP_005273931.1:n.*21+55_*21+56del
XM_011544894.2:c.*21+55_*21+56del (ZDHHC24)	XP_011543196.1:n.*21+55_*21+56del
XR_001747823.2:n.741-2605_741-2604del (ZDHHC24)
XR_949860.3:n.811+55_811+56del (ZDHHC24)
NM_024649.5:c.1339+73_1339+74del (BBS1) MANE Select	NP_078925.3:n.1339+73_1339+74del
NM_001348571.2:c.*21+55_*21+56del (ZDHHC24)	NP_001335500.1:n.*21+55_*21+56del