Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829861dup , CM000685.2:g.68829861dup | GRCh38 |
| NC_000023.10:g.68049704dup , CM000685.1:g.68049704dup | GRCh37 |
| NC_000023.9:g.67966429dup | NCBI36 |
| NG_008887.1:g.5865dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.85dup MANE Select | ENSP00000204961.4:p.Ala29GlyfsTer? | |
| ENST00000204961.4:c.85dup | ENSP00000204961.4:p.Ala29GlyfsTer? | |
| NM_004429.4:c.85dup | NP_004420.1:p.Ala29GlyfsTer? | |
| NM_004429.5:c.85dup MANE Select | NP_004420.1:p.Ala29GlyfsTer? |