Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48516303dup , CM000677.2:g.48516303dup | GRCh38 |
| NC_000015.9:g.48808500dup , CM000677.1:g.48808500dup | GRCh37 |
| NC_000015.8:g.46595792dup | NCBI36 |
| NG_008805.2:g.134490dup , LRG_778:g.134490dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.1211dup MANE Select | NP_000129.3:p.Pro405ThrfsTer? |
| ENST00000316623.10:c.1211dup MANE Select | ENSP00000325527.5:p.Pro405ThrfsTer? |
| NM_000138.4:c.1211dup , LRG_778t1:c.1211dup | NP_000129.3:p.Pro405ThrfsTer? |
| ENST00000316623.9:c.1211dup | ENSP00000325527.5:p.Pro405ThrfsTer? |
| ENST00000537463.6:c.636+21412dup | ENSP00000440294.2:n.636+21412dup |
| ENST00000559133.6:c.1211dup | ENSP00000453958.2:p.Pro405ThrfsTer? |
| ENST00000674301.2:c.1211dup | ENSP00000501333.2:p.Pro405ThrfsTer? |