Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240870691_240870695dup , CM000664.2:g.240870691_240870695dup | GRCh38 |
| NC_000002.11:g.241810108_241810112dup , CM000664.1:g.241810108_241810112dup | GRCh37 |
| NC_000002.10:g.241458781_241458785dup | NCBI36 |
| NG_008005.1:g.6947_6951dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.406_410dup MANE Select | NP_000021.1:p.Gln137HisfsTer19 |
| ENST00000307503.4:c.406_410dup MANE Select | ENSP00000302620.3:p.Gln137HisfsTer19 |
| NM_000030.2:c.406_410dup | NP_000021.1:p.Gln137HisfsTer19 |
| ENST00000307503.3:c.406_410dup | ENSP00000302620.3:p.Gln137HisfsTer19 |
| ENST00000472436.1:n.426_430dup |