Linked Data
ClinVar Variation Id:
1636
ClinVar RCV Id:
RCV000001703
dbSNP Id:
rs387906254
PubMed:
PMID:8528251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19656415del , CM000679.2:g.19656415del | GRCh38 |
| NC_000017.10:g.19559728del , CM000679.1:g.19559728del | GRCh37 |
| NC_000017.9:g.19500320del | NCBI36 |
| NG_007095.2:g.12665del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176643.11:c.521del MANE Select | ENSP00000176643.6:p.Leu174ArgfsTer28 | |
| ENST00000395575.7:c.471+3783del | ENSP00000378942.3:n.471+3783del | |
| ENST00000472059.6:c.*79del | ENSP00000458397.1:n.*79del | |
| ENST00000581518.6:c.521del | ENSP00000461916.2:p.Leu174ArgfsTer28 | |
| ENST00000582991.6:c.521del | ENSP00000464153.1:p.Leu174ArgfsTer28 | |
| ENST00000671841.1:n.1030del | ||
| ENST00000671878.1:c.521del | ENSP00000500516.1:p.Leu174ArgfsTer28 | |
| ENST00000672059.1:n.972del | ||
| ENST00000672322.1:n.1592del | ||
| ENST00000672357.1:c.521del | ENSP00000500092.1:p.Leu174ArgfsTer28 | |
| ENST00000672465.1:c.521del | ENSP00000500517.1:p.Leu174ArgfsTer28 | |
| ENST00000672487.1:c.521del | ENSP00000500740.1:p.Leu174ArgfsTer28 | |
| ENST00000672564.1:n.742del | ||
| ENST00000672567.1:c.412del | ||
| ENST00000672608.1:n.1510del | ||
| ENST00000672709.1:c.375del | ||
| ENST00000673136.1:c.521del | ENSP00000500380.1:p.Leu174ArgfsTer28 | |
| ENST00000673472.1:n.857del | ||
| ENST00000176643.10:c.521del | ENSP00000176643.6:p.Leu174ArgfsTer28 | |
| ENST00000339618.8:c.521del | ENSP00000345774.4:p.Leu174ArgfsTer28 | |
| ENST00000395575.6:c.521del | ENSP00000378942.2:p.Leu174ArgfsTer28 | |
| ENST00000472059.5:c.*79del | ENSP00000458397.1:n.*79del | |
| ENST00000476965.5:n.271del | ||
| ENST00000571537.1:c.14del | ENSP00000458942.1:p.Leu5ArgfsTer28 | |
| ENST00000578614.1:c.*124del | ENSP00000463128.1:n.*124del | |
| ENST00000579855.5:c.521del | ENSP00000463637.1:p.Leu174ArgfsTer28 | |
| ENST00000581518.5:c.521del | ENSP00000461916.1:p.Leu174ArgfsTer28 | |
| ENST00000582991.5:c.521del | ENSP00000464153.1:p.Leu174ArgfsTer28 | |
| ENST00000630662.2:c.-461del | ENSP00000487353.1:n.-461del | |
| ENST00000631291.2:c.521del | ENSP00000486085.1:p.Leu174ArgfsTer28 | |
| NM_000382.2:c.521del | NP_000373.1:p.Leu174ArgfsTer28 | |
| NM_001031806.1:c.521del | NP_001026976.1:p.Leu174ArgfsTer28 | |
| XM_011523732.1:c.521del | XP_011522034.1:p.Leu174ArgfsTer28 | |
| XM_011523733.1:c.521del | XP_011522035.1:p.Leu174ArgfsTer28 | |
| XM_011523733.2:c.521del | XP_011522035.1:p.Leu174ArgfsTer28 | |
| XM_017024355.1:c.521del | XP_016879844.1:p.Leu174ArgfsTer28 | |
| XM_017024356.2:c.521del | XP_016879845.1:p.Leu174ArgfsTer28 | |
| XM_017024357.1:c.521del | XP_016879846.1:p.Leu174ArgfsTer28 | |
| XM_017024358.2:c.521del | XP_016879847.1:p.Leu174ArgfsTer28 | |
| XM_024450651.1:c.-59del | XP_024306419.1:n.-59del | |
| XM_024450652.1:c.-59del | XP_024306420.1:n.-59del | |
| NM_000382.3:c.521del MANE Select | NP_000373.1:p.Leu174ArgfsTer28 | |
| NM_001031806.2:c.521del | NP_001026976.1:p.Leu174ArgfsTer28 | |
| NM_001369136.1:c.521del | NP_001356065.1:p.Leu174ArgfsTer28 | |
| NM_001369137.1:c.521del | NP_001356066.1:p.Leu174ArgfsTer28 | |
| NM_001369138.1:c.521del | NP_001356067.1:p.Leu174ArgfsTer28 | |
| NM_001369139.1:c.521del | NP_001356068.1:p.Leu174ArgfsTer28 | |
| NM_001369146.1:c.521del | NP_001356075.1:p.Leu174ArgfsTer28 | |
| NM_001369148.1:c.-59del | NP_001356077.1:n.-59del | |
| NM_001369137.2:c.521del | NP_001356066.1:p.Leu174ArgfsTer28 | |
| NM_001369138.2:c.521del | NP_001356067.1:p.Leu174ArgfsTer28 | |
| NM_001369146.2:c.521del | NP_001356075.1:p.Leu174ArgfsTer28 | |
| NM_001369148.2:c.-59del | NP_001356077.1:n.-59del |