Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137192453dup , CM000671.2:g.137192453dup | GRCh38 |
| NC_000009.11:g.140086905dup , CM000671.1:g.140086905dup | GRCh37 |
| NC_000009.10:g.139206726dup | NCBI36 |
| NG_027801.1:g.13259dup | |
| NG_027801.2:g.16741dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1964dup MANE Select | ENSP00000387100.4:p.Gly656ArgfsTer? | |
| ENST00000333046.8:c.1358dup | ENSP00000327617.4:p.Gly454ArgfsTer? | |
| ENST00000409012.4:c.1964dup | ENSP00000387100.4:p.Gly656ArgfsTer? | |
| ENST00000477345.1:n.2685dup | ||
| NM_001128228.2:c.1964dup | NP_001121700.2:p.Gly656ArgfsTer? | |
| NM_001128228.3:c.1964dup MANE Select | NP_001121700.2:p.Gly656ArgfsTer? |