Canonical Allele Identifier: CA938983561

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs1856534840
• gnomAD v3: 11-66526900-GGGA-G
• gnomAD v4: 11-66526900-GGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526905_66526907del , CM000673.2:g.66526905_66526907del	GRCh38
NC_000011.9:g.66294376_66294378del , CM000673.1:g.66294376_66294378del	GRCh37
NC_000011.8:g.66050952_66050954del	NCBI36
NG_009093.1:g.21258_21260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+98_1339+100del (BBS1) MANE Select	ENSP00000317469.7:n.1339+98_1339+100del
ENST00000318312.11:c.1339+98_1339+100del (BBS1)	ENSP00000317469.7:n.1339+98_1339+100del
ENST00000393994.4:c.952+98_952+100del (BBS1)	ENSP00000377563.2:n.952+98_952+100del
ENST00000419755.3:c.1450+98_1450+100del	ENSP00000398526.3:n.1450+98_1450+100del
ENST00000455748.6:c.1048+98_1048+100del (BBS1)	ENSP00000405764.2:n.1048+98_1048+100del
ENST00000526760.5:c.*1046+98_*1046+100del (BBS1)	ENSP00000432140.1:n.*1046+98_*1046+100del
ENST00000526986.5:c.*21+33_*21+35del (ZDHHC24)	ENSP00000431321.1:n.*21+33_*21+35del
ENST00000527959.1:n.581_583del (BBS1)
ENST00000529766.5:n.1444_1446del (BBS1)
ENST00000529955.5:n.1310+98_1310+100del (BBS1)
ENST00000534073.5:c.*21+33_*21+35del (ZDHHC24)	ENSP00000436503.1:n.*21+33_*21+35del
ENST00000630659.2:c.*1046+98_*1046+100del (BBS1)	ENSP00000486455.1:n.*1046+98_*1046+100del
NM_024649.4:c.1339+98_1339+100del (BBS1)	NP_078925.3:n.1339+98_1339+100del
XM_005273874.3:c.*21+33_*21+35del (ZDHHC24)	XP_005273931.1:n.*21+33_*21+35del
XM_011544894.1:c.*21+33_*21+35del (ZDHHC24)	XP_011543196.1:n.*21+33_*21+35del
XM_011544895.1:c.560-2627_560-2625del (ZDHHC24)	XP_011543197.1:n.560-2627_560-2625del
XR_949860.1:n.686+33_686+35del (ZDHHC24)
NM_001348571.1:c.*21+33_*21+35del (ZDHHC24)	NP_001335500.1:n.*21+33_*21+35del
XM_005273874.4:c.*21+33_*21+35del (ZDHHC24)	XP_005273931.1:n.*21+33_*21+35del
XM_011544894.2:c.*21+33_*21+35del (ZDHHC24)	XP_011543196.1:n.*21+33_*21+35del
XR_001747823.2:n.741-2627_741-2625del (ZDHHC24)
XR_949860.3:n.811+33_811+35del (ZDHHC24)
NM_024649.5:c.1339+98_1339+100del (BBS1) MANE Select	NP_078925.3:n.1339+98_1339+100del
NM_001348571.2:c.*21+33_*21+35del (ZDHHC24)	NP_001335500.1:n.*21+33_*21+35del