Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86568391dup , CM000678.2:g.86568391dup | GRCh38 |
| NC_000016.9:g.86601997dup , CM000678.1:g.86601997dup | GRCh37 |
| NC_000016.8:g.85159498dup | NCBI36 |
| NG_012025.1:g.6141dup | |
| NG_012025.2:g.6563dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005251.3:c.1056dup MANE Select | NP_005242.1:p.Ala353ArgfsTer? |
| ENST00000649859.1:c.1056dup MANE Select | ENSP00000497759.1:p.Ala353ArgfsTer? |
| NM_005251.2:c.1056dup | NP_005242.1:p.Ala353ArgfsTer? |
| ENST00000320354.5:c.1056dup | ENSP00000326371.4:p.Ala353ArgfsTer? |