Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862694_4862695insTTTT , CM000666.2:g.4862694_4862695insTTTT | GRCh38 |
| NC_000004.11:g.4864421_4864422insTTTT , CM000666.1:g.4864421_4864422insTTTT | GRCh37 |
| NC_000004.10:g.4915322_4915323insTTTT | NCBI36 |
| NG_008121.1:g.8030_8031insTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.470-7_470-6insTTTT MANE Select | ENSP00000372170.4:n.470-7_470-6insTTTT | |
| ENST00000382723.4:c.470-7_470-6insTTTT | ENSP00000372170.4:n.470-7_470-6insTTTT | |
| ENST00000468421.1:n.182-7_182-6insTTTT | ||
| NM_002448.3:c.470-7_470-6insTTTT MANE Select | NP_002439.2:n.470-7_470-6insTTTT |