Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945811_138945818dup , CM000665.2:g.138945811_138945818dup | GRCh38 |
| NC_000003.11:g.138664653_138664660dup , CM000665.1:g.138664653_138664660dup | GRCh37 |
| NC_000003.10:g.140147343_140147350dup | NCBI36 |
| NG_012454.1:g.6330_6337dup | |
| NG_029796.1:g.3578_3585dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_023067.4:c.912_919dup MANE Select | NP_075555.1:p.Pro307HisfsTer? |
| ENST00000648323.1:c.912_919dup MANE Select | ENSP00000497217.1:p.Pro307HisfsTer? |
| NM_023067.3:c.912_919dup | NP_075555.1:p.Pro307HisfsTer? |
| ENST00000330315.3:c.912_919dup | ENSP00000333188.3:p.Pro307HisfsTer? |