Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308399_30308415del , CM000685.2:g.30308399_30308415del | GRCh38 |
| NC_000023.10:g.30326516_30326532del , CM000685.1:g.30326516_30326532del | GRCh37 |
| NC_000023.9:g.30236437_30236453del | NCBI36 |
| NG_009814.1:g.5965_5981del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.950_966del MANE Select | ENSP00000368253.4:p.Leu317HisfsTer? | |
| ENST00000378963.1:c.65_81del | ENSP00000368246.1:p.Leu22HisfsTer? | |
| ENST00000378970.4:c.950_966del | ENSP00000368253.4:p.Leu317HisfsTer? | |
| NM_000475.4:c.950_966del | NP_000466.2:p.Leu317HisfsTer? | |
| NM_000475.5:c.950_966del MANE Select | NP_000466.2:p.Leu317HisfsTer? |