Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18789226dup , CM000681.2:g.18789226dup | GRCh38 |
| NC_000019.9:g.18900035dup , CM000681.1:g.18900035dup | GRCh37 |
| NC_000019.8:g.18761035dup | NCBI36 |
| NG_007070.1:g.7082dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.464dup MANE Select | ENSP00000222271.2:p.Pro156AlafsTer30 | |
| ENST00000222271.6:c.464dup | ENSP00000222271.2:p.Pro156AlafsTer30 | |
| ENST00000425807.1:c.391-332dup | ENSP00000403792.1:n.391-332dup | |
| ENST00000542601.6:c.365dup | ENSP00000439156.2:p.Pro123AlafsTer30 | |
| NM_000095.2:c.464dup | NP_000086.2:p.Pro156AlafsTer30 | |
| NM_000095.3:c.464dup MANE Select | NP_000086.2:p.Pro156AlafsTer30 |