Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945745_128945749dup , CM000671.2:g.128945745_128945749dup | GRCh38 |
| NC_000009.11:g.131708024_131708028dup , CM000671.1:g.131708024_131708028dup | GRCh37 |
| NC_000009.10:g.130747845_130747849dup | NCBI36 |
| NG_017009.1:g.6990_6994dup , LRG_744:g.6990_6994dup | |
| NG_033111.1:g.3053_3057dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1560_1564dup MANE Select | ENSP00000361667.3:p.Gln522LeufsTer4 | |
| ENST00000372586.3:c.1560_1564dup | ENSP00000361667.3:p.Gln522LeufsTer4 | |
| ENST00000482796.1:c.39-3444_39-3440dup | ENSP00000417556.2:n.39-3444_39-3440dup | |
| NM_014908.3:c.1560_1564dup , LRG_744t1:c.1560_1564dup | NP_055723.1:p.Gln522LeufsTer4 | |
| NM_014908.4:c.1560_1564dup MANE Select | NP_055723.1:p.Gln522LeufsTer4 |