Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62065520dup , CM000682.2:g.62065520dup | GRCh38 |
| NC_000020.10:g.60640576dup , CM000682.1:g.60640576dup | GRCh37 |
| NC_000020.9:g.60073971dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252996.9:c.296dup MANE Select | ENSP00000252996.3:p.Gly100ArgfsTer? | |
| ENST00000252996.8:c.296dup | ENSP00000252996.3:p.Gly100ArgfsTer? | |
| NM_003185.3:c.296dup | NP_003176.2:p.Gly100ArgfsTer? | |
| NM_003185.4:c.296dup MANE Select | NP_003176.2:p.Gly100ArgfsTer? |