Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226749dup , CM000673.2:g.5226749dup | GRCh38 |
| NC_000011.9:g.5247979dup , CM000673.1:g.5247979dup | GRCh37 |
| NC_000011.8:g.5204555dup | NCBI36 |
| NG_000007.3:g.70867dup | |
| NG_059281.1:g.5323dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.143dup | ENSP00000494175.1:p.Asp48GlufsTer6 | |
| ENST00000335295.4:c.143dup MANE Select | ENSP00000333994.3:p.Asp48GlufsTer6 | |
| ENST00000380315.2:c.143dup | ENSP00000369671.2:p.Asp48GlufsTer6 | |
| ENST00000475226.1:n.75dup | ||
| ENST00000485743.1:n.194dup | ||
| ENST00000633227.1:c.127dup | ENSP00000488004.1:p.Ile43AsnfsTer? | |
| NM_000518.4:c.143dup | NP_000509.1:p.Asp48GlufsTer6 | |
| NM_000518.5:c.143dup MANE Select | NP_000509.1:p.Asp48GlufsTer6 |