Canonical Allele Identifier: CA2580084546
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Linked Data

ClinVar Variation Id: 2011275
ClinVar RCV Id: RCV002851237

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66523792_66523793delinsGT , CM000673.2:g.66523792_66523793delinsGT GRCh38
NC_000011.9:g.66291263_66291264delinsGT , CM000673.1:g.66291263_66291264delinsGT GRCh37
NC_000011.8:g.66047839_66047840delinsGT NCBI36
NG_009093.1:g.18145_18146delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.1020_1021delinsGT (BBS1) MANE Select ENSP00000317469.7:p.Arg341Trp
ENST00000318312.11:c.1020_1021delinsGT (BBS1) ENSP00000317469.7:p.Arg341Trp
ENST00000393994.4:c.724-2331_724-2330delinsGT (BBS1) ENSP00000377563.2:n.724-2331_724-2330delinsGT
ENST00000419755.3:c.1131_1132delinsGT ENSP00000398526.3:p.Arg378Trp
ENST00000455748.6:c.729_730delinsGT (BBS1) ENSP00000405764.2:p.Arg244Trp
ENST00000526760.5:c.*727_*728delinsGT (BBS1) ENSP00000432140.1:n.*727_*728delinsGT
ENST00000526986.5:c.*22-2327_*22-2326delinsAC (ZDHHC24) ENSP00000431321.1:n.*22-2327_*22-2326delinsAC
ENST00000527959.1:n.164_165delinsGT (BBS1)
ENST00000529766.5:n.1027_1028delinsGT (BBS1)
ENST00000529895.1:n.469_470delinsGT (BBS1)
ENST00000529955.5:n.991_992delinsGT (BBS1)
ENST00000532908.5:c.*680_*681delinsGT (BBS1) ENSP00000431866.1:n.*680_*681delinsGT
ENST00000534073.5:c.*143+362_*143+363delinsAC (ZDHHC24) ENSP00000436503.1:n.*143+362_*143+363delinsAC
ENST00000630659.2:c.*727_*728delinsGT (BBS1) ENSP00000486455.1:n.*727_*728delinsGT
NM_024649.4:c.1020_1021delinsGT (BBS1) NP_078925.3:p.Arg341Trp
XM_005273874.3:c.*22-2327_*22-2326delinsAC (ZDHHC24) XP_005273931.1:n.*22-2327_*22-2326delinsAC
XR_949860.1:n.808+362_808+363delinsAC (ZDHHC24)
NM_001348571.1:c.*22-2327_*22-2326delinsAC (ZDHHC24) NP_001335500.1:n.*22-2327_*22-2326delinsAC
XM_005273874.4:c.*22-2327_*22-2326delinsAC (ZDHHC24) XP_005273931.1:n.*22-2327_*22-2326delinsAC
XR_001747823.2:n.862+362_862+363delinsAC (ZDHHC24)
XR_949860.3:n.933+362_933+363delinsAC (ZDHHC24)
NM_024649.5:c.1020_1021delinsGT (BBS1) MANE Select NP_078925.3:p.Arg341Trp
NM_001348571.2:c.*22-2327_*22-2326delinsAC (ZDHHC24) NP_001335500.1:n.*22-2327_*22-2326delinsAC