Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176952_176954del , CM000678.2:g.176952_176954del | GRCh38 |
| NC_000016.9:g.226951_226953del , CM000678.1:g.226951_226953del | GRCh37 |
| NC_000016.8:g.166951_166953del | NCBI36 |
| NG_000006.1:g.37815_37817del | |
| NG_059186.1:g.5302_5304del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.119_121del MANE Select | ENSP00000322421.5:p.Thr40del | |
| ENST00000397797.1:c.23_25del | ENSP00000380899.1:p.Thr8del | |
| ENST00000472694.1:n.255_257del | ||
| ENST00000487791.1:n.88_90del | ||
| NM_000558.4:c.119_121del | NP_000549.1:p.Thr40del | |
| NM_000558.5:c.119_121del MANE Select | NP_000549.1:p.Thr40del |