Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.78602387_78602394del , CM000675.2:g.78602387_78602394del | GRCh38 |
| NC_000013.10:g.79176522_79176529del , CM000675.1:g.79176522_79176529del | GRCh37 |
| NC_000013.9:g.78074523_78074530del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006237.4:c.283_290del (POU4F1) MANE Select | NP_006228.3:p.Thr95SerfsTer? |
| ENST00000377208.7:c.283_290del (POU4F1) MANE Select | ENSP00000366413.4:p.Thr95SerfsTer? |
| NM_006237.3:c.283_290del (POU4F1) | NP_006228.3:p.Thr95SerfsTer? |
| NR_047001.1:n.385-2914_385-2907del (OBI1-AS1) | |
| ENST00000377208.6:c.283_290del (POU4F1) | ENSP00000366413.4:p.Thr95SerfsTer? |
| XR_941608.1:n.783_790del (POU4F1) |