Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713670dup , CM000681.2:g.6713670dup | GRCh38 |
| NC_000019.9:g.6713681dup , CM000681.1:g.6713681dup | GRCh37 |
| NC_000019.8:g.6664681dup | NCBI36 |
| NG_009557.1:g.11987dup , LRG_27:g.11987dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-156dup | ENSP00000512083.1:n.651-156dup | |
| ENST00000245907.11:c.774-156dup MANE Select | ENSP00000245907.4:n.774-156dup | |
| ENST00000245907.10:c.774-156dup | ENSP00000245907.4:n.774-156dup | |
| ENST00000595577.1:n.278-156dup | ||
| ENST00000597442.5:n.23+101dup | ||
| NM_000064.3:c.774-156dup | NP_000055.2:n.774-156dup | |
| NM_000064.4:c.774-156dup MANE Select | NP_000055.2:n.774-156dup |