Linked Data
ClinVar Variation Id:
371517
dbSNP Id:
rs1057517332
gnomAD v2:
11-66290925-A-G
gnomAD v4:
11-66523454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66523454A>G , CM000673.2:g.66523454A>G | GRCh38 |
| NC_000011.9:g.66290925A>G , CM000673.1:g.66290925A>G | GRCh37 |
| NC_000011.8:g.66047501A>G | NCBI36 |
| NG_009093.1:g.17807A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.831-2A>G (BBS1) MANE Select | ENSP00000317469.7:n.831-2A>G | |
| ENST00000318312.11:c.831-2A>G (BBS1) | ENSP00000317469.7:n.831-2A>G | |
| ENST00000393994.4:c.724-2669A>G (BBS1) | ENSP00000377563.2:n.724-2669A>G | |
| ENST00000419755.3:c.942-2A>G | ENSP00000398526.3:n.942-2A>G | |
| ENST00000455748.6:c.540-2A>G (BBS1) | ENSP00000405764.2:n.540-2A>G | |
| ENST00000524458.5:c.*620-2A>G (BBS1) | ENSP00000436195.1:n.*620-2A>G | |
| ENST00000524884.1:n.516-2A>G (BBS1) | ||
| ENST00000525809.5:c.558-2A>G (BBS1) | ENSP00000431187.1:n.558-2A>G | |
| ENST00000526035.5:c.*534-2A>G (BBS1) | ENSP00000434197.1:n.*534-2A>G | |
| ENST00000526760.5:c.*538-2A>G (BBS1) | ENSP00000432140.1:n.*538-2A>G | |
| ENST00000526986.5:c.*22-1988T>C (ZDHHC24) | ENSP00000431321.1:n.*22-1988T>C | |
| ENST00000529766.5:n.838-2A>G (BBS1) | ||
| ENST00000529895.1:n.278A>G (BBS1) | ||
| ENST00000529955.5:n.802-2A>G (BBS1) | ||
| ENST00000532908.5:c.*491-2A>G (BBS1) | ENSP00000431866.1:n.*491-2A>G | |
| ENST00000533557.5:c.*685-2A>G (BBS1) | ENSP00000434619.1:n.*685-2A>G | |
| ENST00000533644.5:c.*289-2A>G (BBS1) | ENSP00000436073.1:n.*289-2A>G | |
| ENST00000534073.5:c.*143+701T>C (ZDHHC24) | ENSP00000436503.1:n.*143+701T>C | |
| ENST00000630659.2:c.*538-2A>G (BBS1) | ENSP00000486455.1:n.*538-2A>G | |
| NM_024649.4:c.831-2A>G (BBS1) | NP_078925.3:n.831-2A>G | |
| XM_005273874.3:c.*22-1988T>C (ZDHHC24) | XP_005273931.1:n.*22-1988T>C | |
| XR_949860.1:n.808+701T>C (ZDHHC24) | ||
| NM_001348571.1:c.*22-1988T>C (ZDHHC24) | NP_001335500.1:n.*22-1988T>C | |
| XM_005273874.4:c.*22-1988T>C (ZDHHC24) | XP_005273931.1:n.*22-1988T>C | |
| XR_001747823.2:n.862+701T>C (ZDHHC24) | ||
| XR_949860.3:n.933+701T>C (ZDHHC24) | ||
| NM_024649.5:c.831-2A>G (BBS1) MANE Select | NP_078925.3:n.831-2A>G | |
| NM_001348571.2:c.*22-1988T>C (ZDHHC24) | NP_001335500.1:n.*22-1988T>C |