Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021361_94021369dup , CM000663.2:g.94021361_94021369dup | GRCh38 |
| NC_000001.10:g.94486917_94486925dup , CM000663.1:g.94486917_94486925dup | GRCh37 |
| NC_000001.9:g.94259505_94259513dup | NCBI36 |
| NG_009073.1:g.104782_104790dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4890_4898dup MANE Select | ENSP00000359245.3:p.Val1633_Ala1634insLeuAsnVal | |
| ENST00000370225.3:c.4890_4898dup | ENSP00000359245.3:p.Val1633_Ala1634insLeuAsnVal | |
| ENST00000460514.1:n.384_392dup | ||
| ENST00000536513.5:c.1266_1274dup | ENSP00000439707.2:p.Val425_Ala426insLeuAsnVal | |
| NM_000350.2:c.4890_4898dup | NP_000341.2:p.Val1633_Ala1634insLeuAsnVal | |
| NM_000350.3:c.4890_4898dup MANE Select | NP_000341.2:p.Val1633_Ala1634insLeuAsnVal |