Linked Data
dbSNP Id:
rs1254384863
gnomAD v2:
14-88399739-AC-A
gnomAD v3:
14-87933395-AC-A
gnomAD v4:
14-87933395-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87933396del , CM000676.2:g.87933396del | GRCh38 |
| NC_000014.8:g.88399740del , CM000676.1:g.88399740del | GRCh37 |
| NC_000014.7:g.87469493del | NCBI36 |
| NG_011853.2:g.65168del | |
| NG_011853.3:g.65168del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.*1336del MANE Select | ENSP00000261304.2:n.*1336del | |
| ENST00000261304.6:c.*1336del | ENSP00000261304.2:n.*1336del | |
| ENST00000555000.5:c.*74+503del | ENSP00000450472.1:n.*74+503del | |
| NM_000153.3:c.*1336del | NP_000144.2:n.*1336del | |
| NM_001201401.1:c.*1336del | NP_001188330.1:n.*1336del | |
| NM_001201402.1:c.*1336del | NP_001188331.1:n.*1336del | |
| XM_011536618.1:c.*1336del | XP_011534920.1:n.*1336del | |
| XM_011536618.2:c.*1336del | XP_011534920.1:n.*1336del | |
| NM_000153.4:c.*1336del MANE Select | NP_000144.2:n.*1336del | |
| NM_001201401.2:c.*1336del | NP_001188330.1:n.*1336del | |
| NM_001201402.2:c.*1336del | NP_001188331.1:n.*1336del |