Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812620dup , CM000672.2:g.110812620dup | GRCh38 |
| NC_000010.10:g.112572378dup , CM000672.1:g.112572378dup | GRCh37 |
| NC_000010.9:g.112562368dup | NCBI36 |
| NG_021177.1:g.173224dup , LRG_382:g.173224dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2223dup MANE Select | ENSP00000358532.3:p.Ser742ValfsTer15 | |
| ENST00000369519.3:c.2223dup | ENSP00000358532.3:p.Ser742ValfsTer15 | |
| NM_001134363.2:c.2223dup | NP_001127835.2:p.Ser742ValfsTer15 | |
| XM_011539697.1:c.1839dup | XP_011537999.1:p.Ser614ValfsTer15 | |
| XM_017016103.2:c.2058dup | XP_016871592.1:p.Ser687ValfsTer15 | |
| XM_017016104.2:c.1839dup | XP_016871593.1:p.Ser614ValfsTer15 | |
| NM_001134363.3:c.2223dup MANE Select | NP_001127835.2:p.Ser742ValfsTer15 |