Linked Data
dbSNP Id:
rs1369496034
gnomAD v2:
2-128050351-AG-A
gnomAD v3:
2-127292775-AG-A
gnomAD v4:
2-127292775-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127292776del , CM000664.2:g.127292776del | GRCh38 |
| NC_000002.11:g.128050352del , CM000664.1:g.128050352del | GRCh37 |
| NC_000002.10:g.127766822del | NCBI36 |
| NG_007454.1:g.6401del , LRG_462:g.6401del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.305del MANE Select | ENSP00000285398.2:p.Ala102ValfsTer17 | |
| ENST00000642308.1:c.305del | ENSP00000496684.1:p.Ala102ValfsTer17 | |
| ENST00000644317.1:c.235-72del | ENSP00000494012.1:n.235-72del | |
| ENST00000645233.1:c.305del | ENSP00000494116.1:p.Ala102ValfsTer17 | |
| ENST00000645467.1:c.305del | ENSP00000494889.1:p.Ala102ValfsTer17 | |
| ENST00000645736.1:c.161del | ENSP00000494545.1:p.Ala54ValfsTer17 | |
| ENST00000646654.1:c.305del | ENSP00000494526.1:p.Ala102ValfsTer17 | |
| ENST00000647169.1:c.305del | ENSP00000495619.1:p.Ala102ValfsTer17 | |
| ENST00000285398.6:c.305del | ENSP00000285398.2:p.Ala102ValfsTer17 | |
| ENST00000426778.5:c.*286del | ENSP00000415335.1:n.*286del | |
| ENST00000445889.5:c.*348del | ENSP00000390888.1:n.*348del | |
| ENST00000462306.5:n.291-72del | ||
| ENST00000490062.1:n.307-72del | ||
| ENST00000494464.5:n.261-72del | ||
| NM_000122.1:c.305del , LRG_462t1:c.305del | NP_000113.1:p.Ala102ValfsTer17 | |
| NM_001303416.1:c.113del | NP_001290345.1:p.Ala38ValfsTer17 | |
| NM_001303418.1:c.113del | NP_001290347.1:p.Ala38ValfsTer17 | |
| XM_011510794.1:c.305del | XP_011509096.1:p.Ala102ValfsTer17 | |
| XM_011510795.1:c.-80-72del | XP_011509097.1:n.-80-72del | |
| XM_011510794.2:c.305del | XP_011509096.1:p.Ala102ValfsTer17 | |
| XM_017003583.1:c.-80-72del | XP_016859072.1:n.-80-72del | |
| NM_000122.2:c.305del MANE Select | NP_000113.1:p.Ala102ValfsTer17 | |
| NM_001303416.2:c.113del | NP_001290345.1:p.Ala38ValfsTer17 | |
| NM_001303418.2:c.113del | NP_001290347.1:p.Ala38ValfsTer17 |