ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68822217del , CM000678.2:g.68822217del | GRCh38 |
| NC_000016.9:g.68856120del , CM000678.1:g.68856120del | GRCh37 |
| NC_000016.8:g.67413621del | NCBI36 |
| NG_008021.1:g.89926del , LRG_301:g.89926del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1928del MANE Select | ENSP00000261769.4:p.Asn643ThrfsTer10 | |
| ENST00000261769.9:c.1928del | ENSP00000261769.4:p.Asn643ThrfsTer10 | |
| ENST00000422392.6:c.1745del | ENSP00000414946.2:p.Asn582ThrfsTer10 | |
| ENST00000562836.5:n.1999del | ||
| ENST00000566510.5:c.*594del | ENSP00000458139.1:n.*594del | |
| ENST00000566612.5:c.*168del | ENSP00000454782.1:n.*168del | |
| ENST00000611625.4:c.1991del | ENSP00000481063.1:p.Asn664ThrfsTer10 | |
| ENST00000612417.4:c.1830+98del | ENSP00000478360.1:n.1830+98del | |
| ENST00000621016.4:c.1865+63del | ENSP00000480664.1:n.1865+63del | |
| NM_004360.3:c.1928del , LRG_301t1:c.1928del | NP_004351.1:p.Asn643ThrfsTer10 | |
| XM_011523488.1:c.1193del | XP_011521790.1:p.Asn398ThrfsTer10 | |
| XM_011523489.1:c.1193del | XP_011521791.1:p.Asn398ThrfsTer10 | |
| NM_001317184.1:c.1745del | NP_001304113.1:p.Asn582ThrfsTer10 | |
| NM_001317185.1:c.380del | NP_001304114.1:p.Asn127ThrfsTer10 | |
| NM_001317186.1:c.-38del | NP_001304115.1:n.-38del | |
| NM_004360.4:c.1928del | NP_004351.1:p.Asn643ThrfsTer10 | |
| NM_004360.5:c.1928del MANE Select | NP_004351.1:p.Asn643ThrfsTer10 | |
| NM_001317184.2:c.1745del | NP_001304113.1:p.Asn582ThrfsTer10 | |
| NM_001317185.2:c.380del | NP_001304114.1:p.Asn127ThrfsTer10 | |
| NM_001317186.2:c.-38del | NP_001304115.1:n.-38del |