Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471370dup , CM000677.2:g.40471370dup | GRCh38 |
| NC_000015.9:g.40763569dup , CM000677.1:g.40763569dup | GRCh37 |
| NC_000015.8:g.38550861dup | NCBI36 |
| NG_017074.1:g.5410dup , LRG_600:g.5410dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.157dup MANE Select | ENSP00000307297.6:p.Ser53PhefsTer? | |
| ENST00000306243.6:c.157dup | ENSP00000307297.5:p.Ser53PhefsTer? | |
| ENST00000559991.1:c.157dup | ENSP00000453882.1:p.Ser53PhefsTer? | |
| NM_130468.3:c.157dup , LRG_600t1:c.157dup | NP_569735.1:p.Ser53PhefsTer? | |
| NM_130468.4:c.157dup MANE Select | NP_569735.1:p.Ser53PhefsTer? |