Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951806_19951807del , CM000670.2:g.19951806_19951807del | GRCh38 |
| NC_000008.10:g.19809317_19809318del , CM000670.1:g.19809317_19809318del | GRCh37 |
| NC_000008.9:g.19853597_19853598del | NCBI36 |
| NG_008855.1:g.17736_17737del | |
| NG_008855.2:g.55090_55091del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.287_288del MANE Select | ENSP00000497642.1:p.Val96GlyfsTer? | |
| ENST00000311322.8:c.287_288del | ENSP00000309757.6:p.Val96GlyfsTer? | |
| ENST00000520959.5:c.59_60del | ENSP00000428496.1:p.Val20GlyfsTer? | |
| ENST00000521994.1:n.544_545del | ||
| ENST00000522701.5:c.287_288del | ENSP00000428557.1:p.Val96GlyfsTer? | |
| ENST00000524029.5:c.287_288del | ENSP00000428237.1:p.Val96GlyfsTer? | |
| NM_000237.2:c.287_288del | NP_000228.1:p.Val96GlyfsTer? | |
| NM_000237.3:c.287_288del MANE Select | NP_000228.1:p.Val96GlyfsTer? |