Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862750_4862756dup , CM000666.2:g.4862750_4862756dup | GRCh38 |
| NC_000004.11:g.4864477_4864483dup , CM000666.1:g.4864477_4864483dup | GRCh37 |
| NC_000004.10:g.4915378_4915384dup | NCBI36 |
| NG_008121.1:g.8086_8092dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.519_525dup MANE Select | ENSP00000372170.4:p.Arg176Ter | |
| ENST00000382723.4:c.519_525dup | ENSP00000372170.4:p.Arg176Ter | |
| ENST00000468421.1:n.231_237dup | ||
| NM_002448.3:c.519_525dup MANE Select | NP_002439.2:p.Arg176Ter |