Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189240_20189241delinsTT , CM000675.2:g.20189240_20189241delinsTT | GRCh38 |
| NC_000013.10:g.20763379_20763380delinsTT , CM000675.1:g.20763379_20763380delinsTT | GRCh37 |
| NC_000013.9:g.19661379_19661380delinsTT | NCBI36 |
| NG_008358.1:g.8735_8736delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.341_342delinsAA | ENSP00000372295.1:p.Glu114= | |
| ENST00000382848.5:c.341_342delinsAA MANE Select | ENSP00000372299.4:p.Glu114= | |
| ENST00000382844.1:c.341_342delinsAA | ENSP00000372295.1:p.Glu114= | |
| ENST00000382848.4:c.341_342delinsAA | ENSP00000372299.4:p.Glu114= | |
| NM_004004.5:c.341_342delinsAA | NP_003995.2:p.Glu114= | |
| XM_011535049.1:c.341_342delinsAA | XP_011533351.1:p.Glu114= | |
| XM_011535049.2:c.341_342delinsAA | XP_011533351.1:p.Glu114= | |
| NM_004004.6:c.341_342delinsAA MANE Select | NP_003995.2:p.Glu114= |