ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35876171_35876172delinsTG , CM000667.2:g.35876171_35876172delinsTG | GRCh38 |
| NC_000005.9:g.35876273_35876274delinsTG , CM000667.1:g.35876273_35876274delinsTG | GRCh37 |
| NC_000005.8:g.35912030_35912031delinsTG | NCBI36 |
| NG_009567.1:g.24283_24284delinsTG , LRG_74:g.24283_24284delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.1065_1066delinsTG MANE Select | ENSP00000306157.3:p.Ile356Val | |
| ENST00000303115.7:c.1065_1066delinsTG | ENSP00000306157.3:p.Ile356Val | |
| ENST00000505093.1:c.380_381delinsTG | ENSP00000426069.1:n.380_381delinsTG | |
| ENST00000505875.1:n.363_364delinsTG | ||
| ENST00000514217.5:c.*259_*260delinsTG | ENSP00000427688.1:n.*259_*260delinsTG | |
| NM_002185.3:c.1065_1066delinsTG | NP_002176.2:p.Ile356Val | |
| NR_120485.1:n.905_906delinsTG | ||
| NM_002185.4:c.1065_1066delinsTG | NP_002176.2:p.Ile356Val | |
| NR_120485.2:n.931_932delinsTG | ||
| XM_005248299.4:c.*182_*183delinsTG | XP_005248356.1:n.*182_*183delinsTG | |
| NM_002185.5:c.1065_1066delinsTG MANE Select | NP_002176.2:p.Ile356Val | |
| NR_120485.3:n.889_890delinsTG |