Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529174_7529184del , CM000681.2:g.7529174_7529184del | GRCh38 |
| NC_000019.9:g.7594060_7594070del , CM000681.1:g.7594060_7594070del | GRCh37 |
| NC_000019.8:g.7500060_7500070del | NCBI36 |
| NG_013374.1:g.23_33del | |
| NG_015806.1:g.11565_11575del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1208_1218del MANE Select | ENSP00000264079.5:p.Arg403LeufsTer? | |
| ENST00000264079.10:c.1208_1218del | ENSP00000264079.5:p.Arg403LeufsTer? | |
| ENST00000394321.9:n.1523_1533del | ||
| ENST00000594692.1:n.204_214del | ||
| ENST00000595860.5:n.391_401del | ||
| ENST00000599334.1:c.85_95del | ||
| NM_020533.2:c.1208_1218del | NP_065394.1:p.Arg403LeufsTer? | |
| NM_020533.3:c.1208_1218del MANE Select | NP_065394.1:p.Arg403LeufsTer? |