Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226622_5226623del , CM000673.2:g.5226622_5226623del | GRCh38 |
| NC_000011.9:g.5247852_5247853del , CM000673.1:g.5247852_5247853del | GRCh37 |
| NC_000011.8:g.5204428_5204429del | NCBI36 |
| NG_000007.3:g.70994_70995del | |
| NG_059281.1:g.5450_5451del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.270_271del MANE Select | NP_000509.1:p.Ser90ArgfsTer5 |
| ENST00000335295.4:c.270_271del MANE Select | ENSP00000333994.3:p.Ser90ArgfsTer5 |
| NM_000518.4:c.270_271del | NP_000509.1:p.Ser90ArgfsTer5 |
| ENST00000380315.2:c.270_271del | ENSP00000369671.2:p.Ser90ArgfsTer? |
| ENST00000475226.1:n.202_203del | |
| ENST00000485743.1:n.321_322del | |
| ENST00000633227.1:c.*86_*87del | ENSP00000488004.1:n.*86_*87del |
| ENST00000647020.1:c.270_271del | ENSP00000494175.1:p.Ser90ArgfsTer5 |