Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946028_138946049del , CM000665.2:g.138946028_138946049del | GRCh38 |
| NC_000003.11:g.138664870_138664891del , CM000665.1:g.138664870_138664891del | GRCh37 |
| NC_000003.10:g.140147560_140147581del | NCBI36 |
| NG_012454.1:g.6092_6113del | |
| NG_029796.1:g.3795_3816del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.674_695del MANE Select | ENSP00000497217.1:p.Ala225GlufsTer? | |
| ENST00000330315.3:c.674_695del | ENSP00000333188.3:p.Ala225GlufsTer? | |
| NM_023067.3:c.674_695del | NP_075555.1:p.Ala225GlufsTer? | |
| NM_023067.4:c.674_695del MANE Select | NP_075555.1:p.Ala225GlufsTer? |