ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141922_10142030dup , CM000665.2:g.10141922_10142030dup | GRCh38 |
| NC_000003.11:g.10183606_10183714dup , CM000665.1:g.10183606_10183714dup | GRCh37 |
| NC_000003.10:g.10158606_10158714dup | NCBI36 |
| NG_008212.3:g.5288_5396dup , LRG_322:g.5288_5396dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.75_183dup | ENSP00000512434.1:p.Val62Ter | |
| ENST00000696143.1:c.75_183dup | ENSP00000512435.1:p.Val62Ter | |
| ENST00000696153.1:c.75_183dup | ENSP00000512444.1:p.Val62Ter | |
| ENST00000256474.3:c.75_183dup MANE Select | ENSP00000256474.3:p.Val62Ter | |
| ENST00000256474.2:c.75_183dup | ENSP00000256474.2:p.Val62Ter | |
| ENST00000345392.2:c.75_183dup | ENSP00000344757.2:p.Val62Ter | |
| NM_000551.3:c.75_183dup , LRG_322t1:c.75_183dup | NP_000542.1:p.Val62Ter | |
| NM_198156.2:c.75_183dup | NP_937799.1:p.Val62Ter | |
| XM_011534078.1:c.75_183dup | XP_011532380.1:p.Val62Ter | |
| NM_001354723.1:c.75_183dup | NP_001341652.1:p.Val62Ter | |
| NM_000551.4:c.75_183dup MANE Select | NP_000542.1:p.Val62Ter | |
| NM_001354723.2:c.75_183dup | NP_001341652.1:p.Val62Ter | |
| NM_198156.3:c.75_183dup | NP_937799.1:p.Val62Ter |