Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120627151_120627157del , CM000685.2:g.120627151_120627157del | GRCh38 |
| NC_000023.10:g.119761006_119761012del , CM000685.1:g.119761006_119761012del | GRCh37 |
| NC_000023.9:g.119645034_119645040del | NCBI36 |
| NG_016219.1:g.7995_8001del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304661.6:c.11_17del MANE Select | ENSP00000304364.5:p.Glu4AlafsTer4 | |
| ENST00000304661.5:c.11_17del | ENSP00000304364.5:p.Glu4AlafsTer4 | |
| ENST00000371313.2:c.11_17del | ENSP00000360363.2:p.Glu4AlafsTer4 | |
| NM_001011551.2:c.11_17del | NP_001011551.1:p.Glu4AlafsTer4 | |
| NM_152692.4:c.11_17del | NP_689905.1:p.Glu4AlafsTer4 | |
| NM_001011551.3:c.11_17del MANE Select | NP_001011551.1:p.Glu4AlafsTer4 | |
| NM_152692.5:c.11_17del | NP_689905.1:p.Glu4AlafsTer4 |