Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88722889_88722896dup , CM000678.2:g.88722889_88722896dup | GRCh38 |
| NC_000016.9:g.88789297_88789304dup , CM000678.1:g.88789297_88789304dup | GRCh37 |
| NC_000016.8:g.87316798_87316805dup | NCBI36 |
| NG_042229.1:g.67326_67333dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.4610_4617dup MANE Select | NP_001136336.2:p.Ser1540AlafsTer3 |
| ENST00000301015.14:c.4610_4617dup MANE Select | ENSP00000301015.9:p.Ser1540AlafsTer3 |
| NM_001142864.2:c.4610_4617dup | NP_001136336.2:p.Ser1540AlafsTer3 |
| NM_001142864.3:c.4610_4617dup | NP_001136336.2:p.Ser1540AlafsTer3 |
| ENST00000301015.13:c.4610_4617dup | ENSP00000301015.9:p.Ser1540AlafsTer3 |
| ENST00000566414.1:n.339_346dup |