Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1849231dup , CM000666.2:g.1849231dup | GRCh38 |
| NC_000004.11:g.1850958dup , CM000666.1:g.1850958dup | GRCh37 |
| NC_000004.10:g.1820756dup | NCBI36 |
| NG_013063.1:g.12020dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.83-19dup MANE Select | ENSP00000305653.2:n.83-19dup | |
| ENST00000302787.2:c.83-19dup | ENSP00000305653.2:n.83-19dup | |
| ENST00000466175.5:n.88-19dup | ||
| ENST00000512189.1:n.104-19dup | ||
| NM_012318.2:c.83-19dup | NP_036450.1:n.83-19dup | |
| XM_006713884.1:c.83-19dup | XP_006713947.1:n.83-19dup | |
| NM_012318.3:c.83-19dup MANE Select | NP_036450.1:n.83-19dup |