Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849111dup , CM000681.2:g.35849111dup | GRCh38 |
| NC_000019.9:g.36340013dup , CM000681.1:g.36340013dup | GRCh37 |
| NC_000019.8:g.41031853dup | NCBI36 |
| NG_013356.2:g.25177dup , LRG_693:g.25177dup | |
| NG_051206.1:g.2477dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.877dup MANE Select | ENSP00000368190.4:p.His293ProfsTer? | |
| ENST00000353632.6:c.877dup | ENSP00000343634.5:p.His293ProfsTer? | |
| ENST00000378910.9:c.877dup | ENSP00000368190.4:p.His293ProfsTer? | |
| NM_004646.3:c.877dup , LRG_693t1:c.877dup | NP_004637.1:p.His293ProfsTer? | |
| NM_004646.4:c.877dup MANE Select | NP_004637.1:p.His293ProfsTer? |