Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76345845_76345865delinsCTTTCTGAGGGTGTCTCTTAA , CM000674.2:g.76345845_76345865delinsCTTTCTGAGGGTGTCTCTTAA | GRCh38 |
| NC_000012.11:g.76739625_76739645delinsCTTTCTGAGGGTGTCTCTTAA , CM000674.1:g.76739625_76739645delinsCTTTCTGAGGGTGTCTCTTAA | GRCh37 |
| NC_000012.10:g.75263756_75263776delinsCTTTCTGAGGGTGTCTCTTAA | NCBI36 |
| NG_016357.1:g.7578_7598delinsTTAAGAGACACCCTCAGAAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.2120_2140delinsTTAAGAGACACCCTCAGAAAG MANE Select | ENSP00000497413.1:p.Val707= | |
| ENST00000393262.3:c.2120_2140delinsTTAAGAGACACCCTCAGAAAG | ENSP00000376946.3:p.Val707= | |
| NM_024685.3:c.2120_2140delinsTTAAGAGACACCCTCAGAAAG | NP_078961.3:p.Val707= | |
| NM_024685.4:c.2120_2140delinsTTAAGAGACACCCTCAGAAAG MANE Select | NP_078961.3:p.Val707= |