Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2228778_2228780dup , CM000663.2:g.2228778_2228780dup | GRCh38 |
| NC_000001.10:g.2160217_2160219dup , CM000663.1:g.2160217_2160219dup | GRCh37 |
| NC_000001.9:g.2150077_2150079dup | NCBI36 |
| NG_013084.1:g.5084_5086dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003036.4:c.12_14dup MANE Select | NP_003027.1:p.Ala5_Gly6insAla |
| ENST00000378536.5:c.12_14dup MANE Select | ENSP00000367797.4:p.Ala5_Gly6insAla |
| NM_003036.3:c.12_14dup | NP_003027.1:p.Ala5_Gly6insAla |
| ENST00000378536.4:c.12_14dup | ENSP00000367797.4:p.Ala5_Gly6insAla |
| ENST00000704337.1:n.137+1254_137+1256dup | |
| XM_005244775.2:c.12_14dup | XP_005244832.1:p.Ala5_Gly6insAla |
| XM_005244775.3:c.12_14dup | XP_005244832.1:p.Ala5_Gly6insAla |