Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945855_138945886del , CM000665.2:g.138945855_138945886del | GRCh38 |
| NC_000003.11:g.138664697_138664728del , CM000665.1:g.138664697_138664728del | GRCh37 |
| NC_000003.10:g.140147387_140147418del | NCBI36 |
| NG_012454.1:g.6258_6289del | |
| NG_029796.1:g.3622_3653del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.840_871del MANE Select | ENSP00000497217.1:p.Ala283SerfsTer? | |
| ENST00000330315.3:c.840_871del | ENSP00000333188.3:p.Ala283SerfsTer? | |
| NM_023067.3:c.840_871del | NP_075555.1:p.Ala283SerfsTer? | |
| NM_023067.4:c.840_871del MANE Select | NP_075555.1:p.Ala283SerfsTer? |