Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13974660_13974668del , CM000673.2:g.13974660_13974668del | GRCh38 |
| NC_000011.9:g.13996207_13996215del , CM000673.1:g.13996207_13996215del | GRCh37 |
| NC_000011.8:g.13952783_13952791del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576479.4:c.239-8187_239-8179del MANE Select | ENSP00000460236.1:n.239-8187_239-8179del | |
| ENST00000576479.3:c.239-8187_239-8179del | ENSP00000460236.1:n.239-8187_239-8179del | |
| NM_006108.3:c.239-8187_239-8179del | NP_006099.2:n.239-8187_239-8179del | |
| NM_006108.4:c.239-8187_239-8179del MANE Select | NP_006099.2:n.239-8187_239-8179del |