Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60649585_60649586delinsTG , CM000676.2:g.60649585_60649586delinsTG | GRCh38 |
| NC_000014.8:g.61116303_61116304delinsTG , CM000676.1:g.61116303_61116304delinsTG | GRCh37 |
| NC_000014.7:g.60186056_60186057delinsTG | NCBI36 |
| NG_008231.1:g.4852_4853delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553535.2:n.248+2349_248+2350delinsCA | ||
| ENST00000554986.2:c.42-3009_42-3008delinsCA | ENSP00000452700.2:n.42-3009_42-3008delinsCA | |
| ENST00000555955.3:n.1197+2349_1197+2350delinsCA |