MyVariant.info:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504233_241504239del , CM000663.2:g.241504233_241504239del | GRCh38 |
| NC_000001.10:g.241667533_241667539del , CM000663.1:g.241667533_241667539del | GRCh37 |
| NC_000001.9:g.239734156_239734162del | NCBI36 |
| NG_012338.1:g.20517_20523del , LRG_504:g.20517_20523del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1415_1421del | ||
| ENST00000682162.1:c.941_947del | ENSP00000508203.1:n.941_947del | |
| ENST00000682567.1:n.989_995del | ||
| ENST00000683521.1:c.912_918del | ENSP00000506864.1:p.Phe305LeufsTer22 | |
| ENST00000684161.1:n.2127_2133del | ||
| ENST00000684483.1:c.*308_*314del | ENSP00000507894.1:n.*308_*314del | |
| ENST00000366560.4:c.912_918del MANE Select | ENSP00000355518.4:p.Phe305LeufsTer22 | |
| ENST00000366560.3:c.912_918del | ENSP00000355518.3:p.Phe305LeufsTer22 | |
| NM_000143.3:c.912_918del , LRG_504t1:c.912_918del | NP_000134.2:p.Phe305LeufsTer22 | |
| XM_011544132.1:c.684_690del | XP_011542434.1:p.Phe229LeufsTer22 | |
| XM_011544132.2:c.684_690del | XP_011542434.1:p.Phe229LeufsTer22 | |
| NM_000143.4:c.912_918del MANE Select | NP_000134.2:p.Phe305LeufsTer22 |