Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110172dup , CM000670.2:g.118110172dup | GRCh38 |
| NC_000008.10:g.119122411dup , CM000670.1:g.119122411dup | GRCh37 |
| NC_000008.9:g.119191592dup | NCBI36 |
| NG_007455.2:g.6649dup , LRG_493:g.6649dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.876dup MANE Select | ENSP00000367446.3:p.Val293CysfsTer21 | |
| ENST00000436216.2:c.244dup | ||
| ENST00000378204.6:c.876dup | ENSP00000367446.2:p.Val293CysfsTer21 | |
| ENST00000436216.1:c.244dup | ||
| ENST00000437196.1:c.73+803dup | ENSP00000407299.1:n.73+803dup | |
| NM_000127.2:c.876dup , LRG_493t1:c.876dup | NP_000118.2:p.Val293CysfsTer21 | |
| NM_000127.3:c.876dup MANE Select | NP_000118.2:p.Val293CysfsTer21 |