Linked Data
dbSNP Id:
rs1176721907
gnomAD v2:
11-66291123-T-TC
gnomAD v3:
11-66523652-T-TC
gnomAD v4:
11-66523652-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66523656dup , CM000673.2:g.66523656dup | GRCh38 |
| NC_000011.9:g.66291127dup , CM000673.1:g.66291127dup | GRCh37 |
| NC_000011.8:g.66047703dup | NCBI36 |
| NG_009093.1:g.18009dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318312.12:c.952-68dup (BBS1) MANE Select | ENSP00000317469.7:n.952-68dup | |
| ENST00000318312.11:c.952-68dup (BBS1) | ENSP00000317469.7:n.952-68dup | |
| ENST00000393994.4:c.724-2467dup (BBS1) | ENSP00000377563.2:n.724-2467dup | |
| ENST00000419755.3:c.1063-68dup | ENSP00000398526.3:n.1063-68dup | |
| ENST00000455748.6:c.661-68dup (BBS1) | ENSP00000405764.2:n.661-68dup | |
| ENST00000526760.5:c.*659-68dup (BBS1) | ENSP00000432140.1:n.*659-68dup | |
| ENST00000526986.5:c.*22-2187dup (ZDHHC24) | ENSP00000431321.1:n.*22-2187dup | |
| ENST00000527959.1:n.96-68dup (BBS1) | ||
| ENST00000529766.5:n.959-68dup (BBS1) | ||
| ENST00000529895.1:n.401-68dup (BBS1) | ||
| ENST00000529955.5:n.923-68dup (BBS1) | ||
| ENST00000532908.5:c.*612-68dup (BBS1) | ENSP00000431866.1:n.*612-68dup | |
| ENST00000534073.5:c.*143+502dup (ZDHHC24) | ENSP00000436503.1:n.*143+502dup | |
| ENST00000630659.2:c.*659-68dup (BBS1) | ENSP00000486455.1:n.*659-68dup | |
| NM_024649.4:c.952-68dup (BBS1) | NP_078925.3:n.952-68dup | |
| XM_005273874.3:c.*22-2187dup (ZDHHC24) | XP_005273931.1:n.*22-2187dup | |
| XR_949860.1:n.808+502dup (ZDHHC24) | ||
| NM_001348571.1:c.*22-2187dup (ZDHHC24) | NP_001335500.1:n.*22-2187dup | |
| XM_005273874.4:c.*22-2187dup (ZDHHC24) | XP_005273931.1:n.*22-2187dup | |
| XR_001747823.2:n.862+502dup (ZDHHC24) | ||
| XR_949860.3:n.933+502dup (ZDHHC24) | ||
| NM_024649.5:c.952-68dup (BBS1) MANE Select | NP_078925.3:n.952-68dup | |
| NM_001348571.2:c.*22-2187dup (ZDHHC24) | NP_001335500.1:n.*22-2187dup |