Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7934006dup , CM000681.2:g.7934006dup | GRCh38 |
| NC_000019.9:g.7998891dup , CM000681.1:g.7998891dup | GRCh37 |
| NC_000019.8:g.7904891dup | NCBI36 |
| NG_051180.1:g.14818dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.544-3dup MANE Select | ENSP00000270538.2:n.544-3dup | |
| ENST00000270538.7:c.544-3dup | ENSP00000270538.2:n.544-3dup | |
| ENST00000595831.5:c.531-3dup | ||
| ENST00000595876.5:c.*232-3dup | ENSP00000471596.1:n.*232-3dup | |
| ENST00000597926.1:c.448-3dup | ENSP00000469389.1:n.448-3dup | |
| ENST00000600748.5:n.529-3dup | ||
| NM_006351.3:c.544-3dup | NP_006342.2:n.544-3dup | |
| NM_006351.4:c.544-3dup MANE Select | NP_006342.2:n.544-3dup |