Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119185952_119185953dup , CM000666.2:g.119185952_119185953dup | GRCh38 |
| NC_000004.11:g.120107107_120107108dup , CM000666.1:g.120107107_120107108dup | GRCh37 |
| NC_000004.10:g.120326555_120326556dup | NCBI36 |
| NG_029747.1:g.55169_55170dup , LRG_396:g.55169_55170dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016599.5:c.561-14_561-13dup MANE Select | NP_057683.1:n.561-14_561-13dup |
| ENST00000307128.6:c.561-14_561-13dup MANE Select | ENSP00000306997.6:n.561-14_561-13dup |
| NM_016599.4:c.561-14_561-13dup , LRG_396t1:c.561-14_561-13dup | NP_057683.1:n.561-14_561-13dup |
| ENST00000307128.5:c.561-14_561-13dup | ENSP00000306997.5:n.561-14_561-13dup |