Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23392602_23392607delinsGCCTGT , CM000676.2:g.23392602_23392607delinsGCCTGT | GRCh38 |
| NC_000014.8:g.23861811_23861816delinsGCCTGT , CM000676.1:g.23861811_23861816delinsGCCTGT | GRCh37 |
| NC_000014.7:g.22931651_22931656delinsGCCTGT | NCBI36 |
| NG_023444.1:g.20671_20676delinsACAGGC , LRG_389:g.20671_20676delinsACAGGC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.3297_3302delinsACAGGC MANE Select | NP_002462.2:p.Val1101Ala |
| ENST00000405093.9:c.3297_3302delinsACAGGC MANE Select | ENSP00000386041.3:p.Val1101Ala |
| NM_002471.3:c.3297_3302delinsACAGGC , LRG_389t1:c.3297_3302delinsACAGGC | NP_002462.2:p.Val1101Ala |
| ENST00000356287.3:c.3297_3302delinsACAGGC | ENSP00000348634.3:p.Val1101Ala |
| ENST00000405093.7:c.3297_3302delinsACAGGC | ENSP00000386041.3:p.Val1101Ala |