Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070518dup , CM000664.2:g.38070518dup | GRCh38 |
| NC_000002.11:g.38297661dup , CM000664.1:g.38297661dup | GRCh37 |
| NC_000002.10:g.38151165dup | NCBI36 |
| NG_008386.2:g.10590dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000104.4:c.*210dup MANE Select | NP_000095.2:n.*210dup |
| ENST00000610745.5:c.*210dup MANE Select | ENSP00000478561.1:n.*210dup |
| NM_000104.3:c.*210dup | NP_000095.2:n.*210dup |
| ENST00000490576.2:c.*210dup | ENSP00000478839.2:n.*210dup |
| ENST00000491456.1:n.88+98dup | |
| ENST00000494864.1:c.*210dup | ENSP00000479876.1:n.*210dup |
| ENST00000610745.4:c.*210dup | ENSP00000478561.1:n.*210dup |
| ENST00000614273.1:c.*210dup | ENSP00000483678.1:n.*210dup |