Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128847764dup , CM000669.2:g.128847764dup | GRCh38 |
| NC_000007.13:g.128487818dup , CM000669.1:g.128487818dup | GRCh37 |
| NC_000007.12:g.128275054dup | NCBI36 |
| NG_011807.1:g.22336dup , LRG_870:g.22336dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.4356dup MANE Select | ENSP00000327145.8:p.Leu1453AlafsTer? | |
| ENST00000325888.12:c.4356dup | ENSP00000327145.8:p.Leu1453AlafsTer? | |
| ENST00000346177.6:c.4356dup | ENSP00000344002.6:p.Leu1453AlafsTer? | |
| NM_001127487.1:c.4356dup | NP_001120959.1:p.Leu1453AlafsTer? | |
| NM_001458.4:c.4356dup , LRG_870t1:c.4356dup | NP_001449.3:p.Leu1453AlafsTer? | |
| NM_001127487.2:c.4356dup | NP_001120959.1:p.Leu1453AlafsTer? | |
| NM_001458.5:c.4356dup MANE Select | NP_001449.3:p.Leu1453AlafsTer? |