Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021551_94021552del , CM000663.2:g.94021551_94021552del | GRCh38 |
| NC_000001.10:g.94487107_94487108del , CM000663.1:g.94487107_94487108del | GRCh37 |
| NC_000001.9:g.94259695_94259696del | NCBI36 |
| NG_009073.1:g.104598_104599del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4848+88_4848+89del MANE Select | ENSP00000359245.3:n.4848+88_4848+89del | |
| ENST00000370225.3:c.4848+88_4848+89del | ENSP00000359245.3:n.4848+88_4848+89del | |
| ENST00000460514.1:n.342+88_342+89del | ||
| ENST00000536513.5:c.1224+88_1224+89del | ENSP00000439707.2:n.1224+88_1224+89del | |
| NM_000350.2:c.4848+88_4848+89del | NP_000341.2:n.4848+88_4848+89del | |
| NM_000350.3:c.4848+88_4848+89del MANE Select | NP_000341.2:n.4848+88_4848+89del |