Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862577_4862582dup , CM000666.2:g.4862577_4862582dup | GRCh38 |
| NC_000004.11:g.4864304_4864309dup , CM000666.1:g.4864304_4864309dup | GRCh37 |
| NC_000004.10:g.4915205_4915210dup | NCBI36 |
| NG_008121.1:g.7913_7918dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.470-124_470-119dup MANE Select | ENSP00000372170.4:n.470-124_470-119dup | |
| ENST00000382723.4:c.470-124_470-119dup | ENSP00000372170.4:n.470-124_470-119dup | |
| ENST00000468421.1:n.150_155dup | ||
| NM_002448.3:c.470-124_470-119dup MANE Select | NP_002439.2:n.470-124_470-119dup |