Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951853dup , CM000670.2:g.19951853dup | GRCh38 |
| NC_000008.10:g.19809364dup , CM000670.1:g.19809364dup | GRCh37 |
| NC_000008.9:g.19853644dup | NCBI36 |
| NG_008855.1:g.17783dup | |
| NG_008855.2:g.55137dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.334dup MANE Select | ENSP00000497642.1:p.Asp112GlyfsTer? | |
| ENST00000311322.8:c.334dup | ENSP00000309757.6:p.Asp112GlyfsTer? | |
| ENST00000520959.5:c.106dup | ENSP00000428496.1:p.Asp36GlyfsTer? | |
| ENST00000524029.5:c.334dup | ENSP00000428237.1:p.Asp112GlyfsTer? | |
| NM_000237.2:c.334dup | NP_000228.1:p.Asp112GlyfsTer? | |
| NM_000237.3:c.334dup MANE Select | NP_000228.1:p.Asp112GlyfsTer? |