Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862695_4862696insTT , CM000666.2:g.4862695_4862696insTT | GRCh38 |
| NC_000004.11:g.4864422_4864423insTT , CM000666.1:g.4864422_4864423insTT | GRCh37 |
| NC_000004.10:g.4915323_4915324insTT | NCBI36 |
| NG_008121.1:g.8031_8032insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.470-6_470-5insTT MANE Select | ENSP00000372170.4:n.470-6_470-5insTT | |
| ENST00000382723.4:c.470-6_470-5insTT | ENSP00000372170.4:n.470-6_470-5insTT | |
| ENST00000468421.1:n.182-6_182-5insTT | ||
| NM_002448.3:c.470-6_470-5insTT MANE Select | NP_002439.2:n.470-6_470-5insTT |