Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128842718dup , CM000669.2:g.128842718dup | GRCh38 |
| NC_000007.13:g.128482772dup , CM000669.1:g.128482772dup | GRCh37 |
| NC_000007.12:g.128270008dup | NCBI36 |
| NG_011807.1:g.17290dup , LRG_870:g.17290dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2389+20dup MANE Select | ENSP00000327145.8:n.2389+20dup | |
| ENST00000325888.12:c.2389+20dup | ENSP00000327145.8:n.2389+20dup | |
| ENST00000346177.6:c.2389+20dup | ENSP00000344002.6:n.2389+20dup | |
| ENST00000388853.3:n.505+20dup | ||
| NM_001127487.1:c.2389+20dup | NP_001120959.1:n.2389+20dup | |
| NM_001458.4:c.2389+20dup , LRG_870t1:c.2389+20dup | NP_001449.3:n.2389+20dup | |
| NM_001127487.2:c.2389+20dup | NP_001120959.1:n.2389+20dup | |
| NM_001458.5:c.2389+20dup MANE Select | NP_001449.3:n.2389+20dup |