Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308785del , CM000685.2:g.30308785del | GRCh38 |
| NC_000023.10:g.30326902del , CM000685.1:g.30326902del | GRCh37 |
| NC_000023.9:g.30236823del | NCBI36 |
| NG_009814.1:g.5595del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378970.5:c.580del MANE Select | ENSP00000368253.4:p.Ala194ArgfsTer? | |
| ENST00000378970.4:c.580del | ENSP00000368253.4:p.Ala194ArgfsTer? | |
| NM_000475.4:c.580del | NP_000466.2:p.Ala194ArgfsTer? | |
| NM_000475.5:c.580del MANE Select | NP_000466.2:p.Ala194ArgfsTer? |