Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862983_4862984delinsAA , CM000666.2:g.4862983_4862984delinsAA | GRCh38 |
| NC_000004.11:g.4864710_4864711delinsAA , CM000666.1:g.4864710_4864711delinsAA | GRCh37 |
| NC_000004.10:g.4915611_4915612delinsAA | NCBI36 |
| NG_008121.1:g.8319_8320delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.752_753delinsAA MANE Select | ENSP00000372170.4:p.Phe251Ter | |
| ENST00000382723.4:c.752_753delinsAA | ENSP00000372170.4:p.Phe251Ter | |
| ENST00000468421.1:n.464_465delinsAA | ||
| NM_002448.3:c.752_753delinsAA MANE Select | NP_002439.2:p.Phe251Ter |