Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128842908dup , CM000669.2:g.128842908dup | GRCh38 |
| NC_000007.13:g.128482962dup , CM000669.1:g.128482962dup | GRCh37 |
| NC_000007.12:g.128270198dup | NCBI36 |
| NG_011807.1:g.17480dup , LRG_870:g.17480dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2504dup MANE Select | ENSP00000327145.8:p.Pro836ThrfsTer? | |
| ENST00000325888.12:c.2504dup | ENSP00000327145.8:p.Pro836ThrfsTer? | |
| ENST00000346177.6:c.2504dup | ENSP00000344002.6:p.Pro836ThrfsTer? | |
| NM_001127487.1:c.2504dup | NP_001120959.1:p.Pro836ThrfsTer? | |
| NM_001458.4:c.2504dup , LRG_870t1:c.2504dup | NP_001449.3:p.Pro836ThrfsTer? | |
| NM_001127487.2:c.2504dup | NP_001120959.1:p.Pro836ThrfsTer? | |
| NM_001458.5:c.2504dup MANE Select | NP_001449.3:p.Pro836ThrfsTer? |