Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862697_4862698insTTTTTTT , CM000666.2:g.4862697_4862698insTTTTTTT | GRCh38 |
| NC_000004.11:g.4864424_4864425insTTTTTTT , CM000666.1:g.4864424_4864425insTTTTTTT | GRCh37 |
| NC_000004.10:g.4915325_4915326insTTTTTTT | NCBI36 |
| NG_008121.1:g.8033_8034insTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.470-4_470-3insTTTTTTT MANE Select | ENSP00000372170.4:n.470-4_470-3insTTTTTTT | |
| ENST00000382723.4:c.470-4_470-3insTTTTTTT | ENSP00000372170.4:n.470-4_470-3insTTTTTTT | |
| ENST00000468421.1:n.182-4_182-3insTTTTTTT | ||
| NM_002448.3:c.470-4_470-3insTTTTTTT MANE Select | NP_002439.2:n.470-4_470-3insTTTTTTT |