Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35835757dup , CM000681.2:g.35835757dup | GRCh38 |
| NC_000019.9:g.36326659dup , CM000681.1:g.36326659dup | GRCh37 |
| NC_000019.8:g.41018499dup | NCBI36 |
| NG_013356.2:g.38532dup , LRG_693:g.38532dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.3115dup MANE Select | NP_004637.1:p.His1039ProfsTer8 |
| ENST00000378910.10:c.3115dup MANE Select | ENSP00000368190.4:p.His1039ProfsTer8 |
| NM_004646.3:c.3115dup , LRG_693t1:c.3115dup | NP_004637.1:p.His1039ProfsTer8 |
| ENST00000353632.6:c.3115dup | ENSP00000343634.5:p.His1039ProfsTer8 |
| ENST00000378910.9:c.3115dup | ENSP00000368190.4:p.His1039ProfsTer8 |