Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21007412_21007414delinsTAG , CM000664.2:g.21007412_21007414delinsTAG | GRCh38 |
| NC_000002.11:g.21230284_21230286delinsTAG , CM000664.1:g.21230284_21230286delinsTAG | GRCh37 |
| NC_000002.10:g.21083789_21083791delinsTAG | NCBI36 |
| NG_011793.1:g.41660_41662delinsCTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.9454_9456delinsCTA MANE Select | ENSP00000233242.1:p.Leu3152= | |
| ENST00000616098.4:c.9454_9456delinsCTA | ENSP00000477990.1:p.Leu3152= | |
| NM_000384.2:c.9454_9456delinsCTA | NP_000375.2:p.Leu3152= | |
| XM_011532809.1:c.5869+3319_5869+3321delinsCTA | XP_011531111.1:n.5869+3319_5869+3321delinsCTA | |
| NM_000384.3:c.9454_9456delinsCTA MANE Select | NP_000375.3:p.Leu3152= |