Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304703_30304705del , CM000685.2:g.30304703_30304705del | GRCh38 |
| NC_000023.10:g.30322820_30322822del , CM000685.1:g.30322820_30322822del | GRCh37 |
| NC_000023.9:g.30232741_30232743del | NCBI36 |
| NG_009814.1:g.9676_9678del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1289_1291del MANE Select | ENSP00000368253.4:p.Asn430del | |
| ENST00000378970.4:c.1289_1291del | ENSP00000368253.4:p.Asn430del | |
| NM_000475.4:c.1289_1291del | NP_000466.2:p.Asn430del | |
| NM_000475.5:c.1289_1291del MANE Select | NP_000466.2:p.Asn430del |