Canonical Allele Identifier: CA224047731
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Linked Data

dbSNP Id: rs34447847

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66526789_66526790insT , CM000673.2:g.66526789_66526790insT GRCh38
NC_000011.9:g.66294260_66294261insT , CM000673.1:g.66294260_66294261insT GRCh37
NC_000011.8:g.66050836_66050837insT NCBI36
NG_009093.1:g.21142_21143insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.1321_1322insT (BBS1) MANE Select ENSP00000317469.7:p.Glu441ValfsTer?
ENST00000318312.11:c.1321_1322insT (BBS1) ENSP00000317469.7:p.Glu441ValfsTer?
ENST00000393994.4:c.934_935insT (BBS1) ENSP00000377563.2:p.Glu312ValfsTer?
ENST00000419755.3:c.1432_1433insT ENSP00000398526.3:p.Glu478ValfsTer?
ENST00000455748.6:c.1030_1031insT (BBS1) ENSP00000405764.2:p.Glu344ValfsTer?
ENST00000526760.5:c.*1028_*1029insT (BBS1) ENSP00000432140.1:n.*1028_*1029insT
ENST00000526986.5:c.*21+146_*21+147insA (ZDHHC24) ENSP00000431321.1:n.*21+146_*21+147insA
ENST00000527959.1:n.465_466insT (BBS1)
ENST00000529766.5:n.1328_1329insT (BBS1)
ENST00000529955.5:n.1292_1293insT (BBS1)
ENST00000534073.5:c.*21+146_*21+147insA (ZDHHC24) ENSP00000436503.1:n.*21+146_*21+147insA
ENST00000630659.2:c.*1028_*1029insT (BBS1) ENSP00000486455.1:n.*1028_*1029insT
NM_024649.4:c.1321_1322insT (BBS1) NP_078925.3:p.Glu441ValfsTer?
XM_005273874.3:c.*21+146_*21+147insA (ZDHHC24) XP_005273931.1:n.*21+146_*21+147insA
XM_011544894.1:c.*21+146_*21+147insA (ZDHHC24) XP_011543196.1:n.*21+146_*21+147insA
XM_011544895.1:c.560-2514_560-2513insA (ZDHHC24) XP_011543197.1:n.560-2514_560-2513insA
XR_949860.1:n.686+146_686+147insA (ZDHHC24)
NM_001348571.1:c.*21+146_*21+147insA (ZDHHC24) NP_001335500.1:n.*21+146_*21+147insA
XM_005273874.4:c.*21+146_*21+147insA (ZDHHC24) XP_005273931.1:n.*21+146_*21+147insA
XM_011544894.2:c.*21+146_*21+147insA (ZDHHC24) XP_011543196.1:n.*21+146_*21+147insA
XR_001747823.2:n.741-2514_741-2513insA (ZDHHC24)
XR_949860.3:n.811+146_811+147insA (ZDHHC24)
NM_024649.5:c.1321_1322insT (BBS1) MANE Select NP_078925.3:p.Glu441ValfsTer?
NM_001348571.2:c.*21+146_*21+147insA (ZDHHC24) NP_001335500.1:n.*21+146_*21+147insA