ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23392601_23392602delinsTG , CM000676.2:g.23392601_23392602delinsTG | GRCh38 |
| NC_000014.8:g.23861810_23861811delinsTG , CM000676.1:g.23861810_23861811delinsTG | GRCh37 |
| NC_000014.7:g.22931650_22931651delinsTG | NCBI36 |
| NG_023444.1:g.20676_20677delinsCA , LRG_389:g.20676_20677delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.3302_3303delinsCA MANE Select | ENSP00000386041.3:p.Val1101Ala | |
| ENST00000356287.3:c.3302_3303delinsCA | ENSP00000348634.3:p.Val1101Ala | |
| ENST00000405093.7:c.3302_3303delinsCA | ENSP00000386041.3:p.Val1101Ala | |
| NM_002471.3:c.3302_3303delinsCA , LRG_389t1:c.3302_3303delinsCA | NP_002462.2:p.Val1101Ala | |
| NM_002471.4:c.3302_3303delinsCA MANE Select | NP_002462.2:p.Val1101Ala |