Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1801449_1801450dup , CM000667.2:g.1801449_1801450dup | GRCh38 |
| NC_000005.9:g.1801563_1801564dup , CM000667.1:g.1801563_1801564dup | GRCh37 |
| NC_000005.8:g.1854563_1854564dup | NCBI36 |
| NG_013354.1:g.5068_5069dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004553.6:c.32_33dup MANE Select | NP_004544.1:p.Asn12Ter |
| ENST00000274137.10:c.32_33dup MANE Select | ENSP00000274137.6:p.Asn12Ter |
| NM_004553.4:c.32_33dup | NP_004544.1:p.Asn12Ter |
| ENST00000274137.9:c.32_33dup | ENSP00000274137.5:p.Asn12Ter |
| ENST00000469176.1:c.32_33dup | ENSP00000422557.1:p.Asn12Ter |
| ENST00000510329.1:n.29_30dup |