Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308618_30308619del , CM000685.2:g.30308618_30308619del | GRCh38 |
| NC_000023.10:g.30326735_30326736del , CM000685.1:g.30326735_30326736del | GRCh37 |
| NC_000023.9:g.30236656_30236657del | NCBI36 |
| NG_009814.1:g.5760_5761del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.745_746del MANE Select | ENSP00000368253.4:p.Lys249GlufsTer? | |
| ENST00000378970.4:c.745_746del | ENSP00000368253.4:p.Lys249GlufsTer? | |
| NM_000475.4:c.745_746del | NP_000466.2:p.Lys249GlufsTer? | |
| NM_000475.5:c.745_746del MANE Select | NP_000466.2:p.Lys249GlufsTer? |