Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849122dup , CM000681.2:g.35849122dup | GRCh38 |
| NC_000019.9:g.36340024dup , CM000681.1:g.36340024dup | GRCh37 |
| NC_000019.8:g.41031864dup | NCBI36 |
| NG_013356.2:g.25169dup , LRG_693:g.25169dup | |
| NG_051206.1:g.2488dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.869dup MANE Select | ENSP00000368190.4:p.Thr291HisfsTer? | |
| ENST00000353632.6:c.869dup | ENSP00000343634.5:p.Thr291HisfsTer? | |
| ENST00000378910.9:c.869dup | ENSP00000368190.4:p.Thr291HisfsTer? | |
| NM_004646.3:c.869dup , LRG_693t1:c.869dup | NP_004637.1:p.Thr291HisfsTer? | |
| NM_004646.4:c.869dup MANE Select | NP_004637.1:p.Thr291HisfsTer? |