Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26156786dup , CM000668.2:g.26156786dup | GRCh38 |
| NC_000006.11:g.26157014dup , CM000668.1:g.26157014dup | GRCh37 |
| NC_000006.10:g.26264993dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005321.3:c.396dup MANE Select | NP_005312.1:p.Gly133ArgfsTer? |
| ENST00000304218.6:c.396dup MANE Select | ENSP00000307705.4:p.Gly133ArgfsTer? |
| NM_005321.2:c.396dup | NP_005312.1:p.Gly133ArgfsTer? |
| ENST00000304218.5:c.396dup | ENSP00000307705.3:p.Gly133ArgfsTer? |