Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176945_176947del , CM000678.2:g.176945_176947del | GRCh38 |
| NC_000016.9:g.226944_226946del , CM000678.1:g.226944_226946del | GRCh37 |
| NC_000016.8:g.166944_166946del | NCBI36 |
| NG_000006.1:g.37808_37810del | |
| NG_059186.1:g.5295_5297del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.112_114del MANE Select | NP_000549.1:p.Pro38del |
| ENST00000320868.9:c.112_114del MANE Select | ENSP00000322421.5:p.Pro38del |
| NM_000558.4:c.112_114del | NP_000549.1:p.Pro38del |
| ENST00000397797.1:c.16_18del | ENSP00000380899.1:p.Pro6del |
| ENST00000472694.1:n.248_250del | |
| ENST00000487791.1:n.81_83del |