Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013545_25013568dup , CM000685.2:g.25013545_25013568dup | GRCh38 |
| NC_000023.10:g.25031662_25031685dup , CM000685.1:g.25031662_25031685dup | GRCh37 |
| NC_000023.9:g.24941583_24941606dup | NCBI36 |
| NG_008281.1:g.7382_7405dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139058.3:c.428_451dup MANE Select | NP_620689.1:p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla |
| ENST00000379044.5:c.428_451dup MANE Select | ENSP00000368332.4:p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla |
| NM_139058.2:c.428_451dup | NP_620689.1:p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla |
| ENST00000379044.4:c.428_451dup | ENSP00000368332.4:p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla |