Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26156797dup , CM000668.2:g.26156797dup | GRCh38 |
| NC_000006.11:g.26157025dup , CM000668.1:g.26157025dup | GRCh37 |
| NC_000006.10:g.26265004dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005321.3:c.407dup MANE Select | NP_005312.1:p.Lys137GlufsTer? |
| ENST00000304218.6:c.407dup MANE Select | ENSP00000307705.4:p.Lys137GlufsTer? |
| NM_005321.2:c.407dup | NP_005312.1:p.Lys137GlufsTer? |
| ENST00000304218.5:c.407dup | ENSP00000307705.3:p.Lys137GlufsTer? |