Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862911_4862913delinsCAA , CM000666.2:g.4862911_4862913delinsCAA | GRCh38 |
| NC_000004.11:g.4864638_4864640delinsCAA , CM000666.1:g.4864638_4864640delinsCAA | GRCh37 |
| NC_000004.10:g.4915539_4915541delinsCAA | NCBI36 |
| NG_008121.1:g.8247_8249delinsCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.680_682delinsCAA MANE Select | ENSP00000372170.4:p.Ala227= | |
| ENST00000382723.4:c.680_682delinsCAA | ENSP00000372170.4:p.Ala227= | |
| ENST00000468421.1:n.392_394delinsCAA | ||
| NM_002448.3:c.680_682delinsCAA MANE Select | NP_002439.2:p.Ala227= |