Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862896dup , CM000666.2:g.4862896dup | GRCh38 |
| NC_000004.11:g.4864623dup , CM000666.1:g.4864623dup | GRCh37 |
| NC_000004.10:g.4915524dup | NCBI36 |
| NG_008121.1:g.8232dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.665dup MANE Select | ENSP00000372170.4:p.Asn222LysfsTer? | |
| ENST00000382723.4:c.665dup | ENSP00000372170.4:p.Asn222LysfsTer? | |
| ENST00000468421.1:n.377dup | ||
| NM_002448.3:c.665dup MANE Select | NP_002439.2:p.Asn222LysfsTer? |