Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225653_5225656dup , CM000673.2:g.5225653_5225656dup | GRCh38 |
| NC_000011.9:g.5246883_5246886dup , CM000673.1:g.5246883_5246886dup | GRCh37 |
| NC_000011.8:g.5203459_5203462dup | NCBI36 |
| NG_000007.3:g.71962_71965dup | |
| NG_059281.1:g.6418_6421dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.388_391dup | ENSP00000494175.1:p.Tyr131CysfsTer11 | |
| ENST00000335295.4:c.388_391dup MANE Select | ENSP00000333994.3:p.Tyr131CysfsTer11 | |
| ENST00000633227.1:c.*204_*207dup | ENSP00000488004.1:n.*204_*207dup | |
| NM_000518.4:c.388_391dup | NP_000509.1:p.Tyr131CysfsTer11 | |
| NM_000518.5:c.388_391dup MANE Select | NP_000509.1:p.Tyr131CysfsTer11 |