Linked Data
dbSNP Id:
rs1372926915
gnomAD v2:
1-205744390-AC-A
gnomAD v3:
1-205775262-AC-A
gnomAD v4:
1-205775262-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205775264del , CM000663.2:g.205775264del | GRCh38 |
| NC_000001.10:g.205744392del , CM000663.1:g.205744392del | GRCh37 |
| NC_000001.9:g.204011015del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367139.8:c.-131+10del MANE Select | ENSP00000356107.3:n.-131+10del | |
| ENST00000235932.8:c.-131+111del | ENSP00000235932.4:n.-131+111del | |
| ENST00000367139.7:c.-131+10del | ENSP00000356107.3:n.-131+10del | |
| ENST00000414729.1:c.-307del | ENSP00000402910.1:n.-307del | |
| ENST00000437324.6:c.-93+10del | ENSP00000416613.2:n.-93+10del | |
| ENST00000468887.1:n.168+10del | ||
| ENST00000528078.1:c.-131+10del | ENSP00000431483.1:n.-131+10del | |
| NM_001135662.1:c.-131+111del | NP_001129134.1:n.-131+111del | |
| NM_001135663.1:c.-307del | NP_001129135.1:n.-307del | |
| NM_001135664.1:c.-93+10del | NP_001129136.1:n.-93+10del | |
| NM_003929.2:c.-131+10del | NP_003920.1:n.-131+10del | |
| XM_005245569.1:c.-136+111del | XP_005245626.1:n.-136+111del | |
| XM_005245570.1:c.-136+10del | XP_005245627.1:n.-136+10del | |
| XM_005245571.1:c.-131+139del | XP_005245628.1:n.-131+139del | |
| XM_006711605.2:c.-93+111del | XP_006711668.1:n.-93+111del | |
| XM_006711606.1:c.-93+139del | XP_006711669.1:n.-93+139del | |
| XM_006711605.3:c.-93+111del | XP_006711668.1:n.-93+111del | |
| XM_006711606.3:c.-93+139del | XP_006711669.1:n.-93+139del | |
| XM_017002748.1:c.-131+10del | XP_016858237.1:n.-131+10del | |
| XM_017002749.1:c.-136+10del | XP_016858238.1:n.-136+10del | |
| XM_017002750.1:c.-131+111del | XP_016858239.1:n.-131+111del | |
| NM_003929.3:c.-131+10del MANE Select | NP_003920.1:n.-131+10del | |
| NM_001135662.2:c.-131+111del | NP_001129134.1:n.-131+111del | |
| NM_001135663.2:c.-307del | NP_001129135.1:n.-307del | |
| NM_001135664.2:c.-93+10del | NP_001129136.1:n.-93+10del |