Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169488031dup , CM000664.2:g.169488031dup | GRCh38 |
| NC_000002.11:g.170344541dup , CM000664.1:g.170344541dup | GRCh37 |
| NC_000002.10:g.170052787dup | NCBI36 |
| NG_011567.1:g.13536dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295240.8:c.303dup MANE Select | ENSP00000295240.3:p.Asn102Ter | |
| ENST00000295240.7:c.303dup | ENSP00000295240.3:p.Asn102Ter | |
| ENST00000392663.6:c.303dup | ENSP00000376431.2:p.Asn102Ter | |
| ENST00000443151.1:c.*25dup | ENSP00000406182.1:n.*25dup | |
| ENST00000475571.1:n.270dup | ||
| ENST00000513963.1:c.303dup | ENSP00000424363.1:p.Asn102Ter | |
| NM_152384.2:c.303dup | NP_689597.1:p.Asn102Ter | |
| NM_152384.3:c.303dup MANE Select | NP_689597.1:p.Asn102Ter |