Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814105_218814107delinsTTA , CM000664.2:g.218814105_218814107delinsTTA | GRCh38 |
| NC_000002.11:g.219678828_219678830delinsTTA , CM000664.1:g.219678828_219678830delinsTTA | GRCh37 |
| NC_000002.10:g.219387072_219387074delinsTTA | NCBI36 |
| NG_007959.1:g.37357_37359delinsTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1102_1104delinsTTA MANE Select | ENSP00000258415.4:p.Val368Leu | |
| ENST00000258415.8:c.1102_1104delinsTTA | ENSP00000258415.4:p.Val368Leu | |
| ENST00000494263.5:n.1536_1538delinsTTA | ||
| NM_000784.3:c.1102_1104delinsTTA | NP_000775.1:p.Val368Leu | |
| XM_017003488.2:c.682_684delinsTTA | XP_016858977.1:p.Val228Leu | |
| NM_000784.4:c.1102_1104delinsTTA MANE Select | NP_000775.1:p.Val368Leu |