Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945956_138946050dup , CM000665.2:g.138945956_138946050dup | GRCh38 |
| NC_000003.11:g.138664798_138664892dup , CM000665.1:g.138664798_138664892dup | GRCh37 |
| NC_000003.10:g.140147488_140147582dup | NCBI36 |
| NG_012454.1:g.6093_6187dup | |
| NG_029796.1:g.3723_3817dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.675_769dup MANE Select | ENSP00000497217.1:p.Pro257ArgfsTer46 | |
| ENST00000330315.3:c.675_769dup | ENSP00000333188.3:p.Pro257ArgfsTer46 | |
| NM_023067.3:c.675_769dup | NP_075555.1:p.Pro257ArgfsTer46 | |
| NM_023067.4:c.675_769dup MANE Select | NP_075555.1:p.Pro257ArgfsTer46 |