Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40134395dup , CM000669.2:g.40134395dup | GRCh38 |
| NC_000007.13:g.40173994dup , CM000669.1:g.40173994dup | GRCh37 |
| NC_000007.12:g.40140519dup | NCBI36 |
| NG_016989.2:g.5258dup | |
| NG_023422.1:g.4420dup | |
| NG_023422.2:g.4420dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138701.4:c.173dup MANE Select | NP_619646.1:p.Arg59Ter |
| ENST00000306984.8:c.173dup MANE Select | ENSP00000304553.5:p.Arg59Ter |
| NM_138701.3:c.173dup | NP_619646.1:p.Arg59Ter |
| ENST00000306984.6:c.173dup | ENSP00000304553.5:p.Arg59Ter |