Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862821_4862825dup , CM000666.2:g.4862821_4862825dup | GRCh38 |
| NC_000004.11:g.4864548_4864552dup , CM000666.1:g.4864548_4864552dup | GRCh37 |
| NC_000004.10:g.4915449_4915453dup | NCBI36 |
| NG_008121.1:g.8157_8161dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.590_594dup MANE Select | ENSP00000372170.4:p.Ile199CysfsTer20 | |
| ENST00000382723.4:c.590_594dup | ENSP00000372170.4:p.Ile199CysfsTer20 | |
| ENST00000468421.1:n.302_306dup | ||
| NM_002448.3:c.590_594dup MANE Select | NP_002439.2:p.Ile199CysfsTer20 |