Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942461del , CM000664.2:g.44942461del | GRCh38 |
| NC_000002.11:g.45169600del , CM000664.1:g.45169600del | GRCh37 |
| NC_000002.10:g.45023104del | NCBI36 |
| NG_016222.1:g.5564del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260653.5:c.357del MANE Select | ENSP00000260653.3:p.Ala121ArgfsTer? | |
| ENST00000260653.4:c.357del | ENSP00000260653.3:p.Ala121ArgfsTer? | |
| NM_005413.3:c.357del | NP_005404.1:p.Ala121ArgfsTer? | |
| XM_011533042.1:c.357del | XP_011531344.1:p.Ala121ArgfsTer? | |
| NM_005413.4:c.357del MANE Select | NP_005404.1:p.Ala121ArgfsTer? |