Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644845_10644846delinsAG , CM000682.2:g.10644845_10644846delinsAG | GRCh38 |
| NC_000020.10:g.10625493_10625494delinsAG , CM000682.1:g.10625493_10625494delinsAG | GRCh37 |
| NC_000020.9:g.10573493_10573494delinsAG | NCBI36 |
| NG_007496.1:g.34201_34202delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.2344+17_2344+18delinsCT MANE Select | ENSP00000254958.4:n.2344+17_2344+18delins... | |
| ENST00000617965.2:n.2933+17_2933+18delinsCT | ||
| ENST00000254958.9:c.2344+17_2344+18delinsCT | ENSP00000254958.4:n.2344+17_2344+18delins... | |
| ENST00000423891.6:n.2210+17_2210+18delinsCT | ||
| ENST00000488480.2:n.758_759delinsCT | ||
| NM_000214.2:c.2344+17_2344+18delinsCT | NP_000205.1:n.2344+17_2344+18delinsCT | |
| NM_000214.3:c.2344+17_2344+18delinsCT MANE Select | NP_000205.1:n.2344+17_2344+18delinsCT |