Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946036_138946059del , CM000665.2:g.138946036_138946059del | GRCh38 |
| NC_000003.11:g.138664878_138664901del , CM000665.1:g.138664878_138664901del | GRCh37 |
| NC_000003.10:g.140147568_140147591del | NCBI36 |
| NG_012454.1:g.6084_6107del | |
| NG_029796.1:g.3803_3826del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.666_689del MANE Select | ENSP00000497217.1:p.Ala223_Ala230del | |
| ENST00000330315.3:c.666_689del | ENSP00000333188.3:p.Ala223_Ala230del | |
| NM_023067.3:c.666_689del | NP_075555.1:p.Ala223_Ala230del | |
| NM_023067.4:c.666_689del MANE Select | NP_075555.1:p.Ala223_Ala230del |