Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44110794del , CM000669.2:g.44110794del | GRCh38 |
| NC_000007.13:g.44150393del , CM000669.1:g.44150393del | GRCh37 |
| NC_000007.12:g.44116918del | NCBI36 |
| NG_056775.1:g.11475del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.1470del MANE Select | NP_001120.3:p.Asn490LysfsTer6 |
| ENST00000223357.8:c.1470del MANE Select | ENSP00000223357.3:p.Asn490LysfsTer6 |
| NM_001129.4:c.1470del | NP_001120.3:p.Asn490LysfsTer6 |
| ENST00000223357.7:c.1470del | ENSP00000223357.3:p.Asn490LysfsTer6 |
| ENST00000434445.1:c.153del | ENSP00000397241.1:p.Asn51LysfsTer? |
| ENST00000450684.2:c.-5del | ENSP00000398878.2:n.-5del |
| XM_011515162.1:c.1392del | XP_011513464.1:p.Asn464LysfsTer6 |