Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87714139_87714142dup , CM000672.2:g.87714139_87714142dup | GRCh38 |
| NC_000010.10:g.89473896_89473899dup , CM000672.1:g.89473896_89473899dup | GRCh37 |
| NC_000010.9:g.89463876_89463879dup | NCBI36 |
| NG_012150.1:g.59421_59424dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.477_480dup MANE Select | ENSP00000406157.1:p.Lys161ArgfsTer6 | |
| ENST00000361175.8:c.477_480dup | ENSP00000354436.4:p.Lys161ArgfsTer6 | |
| ENST00000456849.1:c.477_480dup | ENSP00000406157.1:p.Lys161ArgfsTer6 | |
| NM_001015880.1:c.477_480dup | NP_001015880.1:p.Lys161ArgfsTer6 | |
| NM_004670.3:c.477_480dup | NP_004661.2:p.Lys161ArgfsTer6 | |
| NM_001015880.2:c.477_480dup MANE Select | NP_001015880.1:p.Lys161ArgfsTer6 | |
| NM_004670.4:c.477_480dup | NP_004661.2:p.Lys161ArgfsTer6 |