Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226611_5226612dup , CM000673.2:g.5226611_5226612dup | GRCh38 |
| NC_000011.9:g.5247841_5247842dup , CM000673.1:g.5247841_5247842dup | GRCh37 |
| NC_000011.8:g.5204417_5204418dup | NCBI36 |
| NG_000007.3:g.71006_71007dup | |
| NG_059281.1:g.5462_5463dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.282_283dup | ENSP00000494175.1:p.Asp95ValfsTer? | |
| ENST00000335295.4:c.282_283dup MANE Select | ENSP00000333994.3:p.Asp95ValfsTer? | |
| ENST00000475226.1:n.214_215dup | ||
| ENST00000485743.1:n.333_334dup | ||
| ENST00000633227.1:c.*98_*99dup | ENSP00000488004.1:n.*98_*99dup | |
| NM_000518.4:c.282_283dup | NP_000509.1:p.Asp95ValfsTer? | |
| NM_000518.5:c.282_283dup MANE Select | NP_000509.1:p.Asp95ValfsTer? |