Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40209699_40209702dup , CM000677.2:g.40209699_40209702dup | GRCh38 |
| NC_000015.9:g.40501900_40501903dup , CM000677.1:g.40501900_40501903dup | GRCh37 |
| NC_000015.8:g.38289192_38289195dup | NCBI36 |
| NG_016338.1:g.53691_53694dup , LRG_489:g.53691_53694dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.2208_2211dup MANE Select | NP_001202.5:p.Ser738ValfsTer16 |
| ENST00000287598.11:c.2208_2211dup MANE Select | ENSP00000287598.7:p.Ser738ValfsTer16 |
| NM_001211.5:c.2208_2211dup , LRG_489t1:c.2208_2211dup | NP_001202.4:p.Ser738ValfsTer16 |
| ENST00000287598.10:c.2208_2211dup | ENSP00000287598.6:p.Ser738ValfsTer16 |
| ENST00000412359.7:c.2250_2253dup | ENSP00000398470.3:p.Ser752ValfsTer16 |
| XR_001751506.1:n.218-29500_218-29497dup |