Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40134449dup , CM000669.2:g.40134449dup | GRCh38 |
| NC_000007.13:g.40174048dup , CM000669.1:g.40174048dup | GRCh37 |
| NC_000007.12:g.40140573dup | NCBI36 |
| NG_016989.2:g.5207dup | |
| NG_023422.1:g.4474dup | |
| NG_023422.2:g.4474dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138701.4:c.122dup MANE Select | NP_619646.1:p.Arg42SerfsTer18 |
| ENST00000306984.8:c.122dup MANE Select | ENSP00000304553.5:p.Arg42SerfsTer18 |
| NM_138701.3:c.122dup | NP_619646.1:p.Arg42SerfsTer18 |
| ENST00000306984.6:c.122dup | ENSP00000304553.5:p.Arg42SerfsTer18 |