Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945694_138945710del , CM000665.2:g.138945694_138945710del | GRCh38 |
| NC_000003.11:g.138664536_138664552del , CM000665.1:g.138664536_138664552del | GRCh37 |
| NC_000003.10:g.140147226_140147242del | NCBI36 |
| NG_012454.1:g.6432_6448del | |
| NG_029796.1:g.3461_3477del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.1014_1030del MANE Select | ENSP00000497217.1:p.Ser339ValfsTer? | |
| ENST00000330315.3:c.1014_1030del | ENSP00000333188.3:p.Ser339ValfsTer? | |
| NM_023067.3:c.1014_1030del | NP_075555.1:p.Ser339ValfsTer? | |
| NM_023067.4:c.1014_1030del MANE Select | NP_075555.1:p.Ser339ValfsTer? |