Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40134349dup , CM000669.2:g.40134349dup | GRCh38 |
| NC_000007.13:g.40173948dup , CM000669.1:g.40173948dup | GRCh37 |
| NC_000007.12:g.40140473dup | NCBI36 |
| NG_016989.2:g.5306dup | |
| NG_023422.1:g.4374dup | |
| NG_023422.2:g.4374dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306984.8:c.221dup MANE Select | ENSP00000304553.5:p.Arg77ProfsTer? | |
| ENST00000306984.6:c.221dup | ENSP00000304553.5:p.Arg77ProfsTer? | |
| NM_138701.3:c.221dup | NP_619646.1:p.Arg77ProfsTer? | |
| NM_138701.4:c.221dup MANE Select | NP_619646.1:p.Arg77ProfsTer? |