Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946406_138946411del , CM000665.2:g.138946406_138946411del | GRCh38 |
| NC_000003.11:g.138665248_138665253del , CM000665.1:g.138665248_138665253del | GRCh37 |
| NC_000003.10:g.140147938_140147943del | NCBI36 |
| NG_012454.1:g.5732_5737del | |
| NG_029796.1:g.4173_4178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.314_319del MANE Select | ENSP00000497217.1:p.Asn105_Leu106del | |
| ENST00000330315.3:c.314_319del | ENSP00000333188.3:p.Asn105_Leu106del | |
| NM_023067.3:c.314_319del | NP_075555.1:p.Asn105_Leu106del | |
| NM_023067.4:c.314_319del MANE Select | NP_075555.1:p.Asn105_Leu106del |