Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644742_10644743delinsAC , CM000682.2:g.10644742_10644743delinsAC | GRCh38 |
| NC_000020.10:g.10625390_10625391delinsAC , CM000682.1:g.10625390_10625391delinsAC | GRCh37 |
| NC_000020.9:g.10573390_10573391delinsAC | NCBI36 |
| NG_007496.1:g.34304_34305delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2344+120_2344+121delinsGT MANE Select | ENSP00000254958.4:n.2344+120_2344+121delinsGT | |
| ENST00000617965.2:n.2933+120_2933+121delinsGT | ||
| ENST00000254958.9:c.2344+120_2344+121delinsGT | ENSP00000254958.4:n.2344+120_2344+121delinsGT | |
| ENST00000423891.6:n.2210+120_2210+121delinsGT | ||
| ENST00000488480.2:n.861_862delinsGT | ||
| NM_000214.2:c.2344+120_2344+121delinsGT | NP_000205.1:n.2344+120_2344+121delinsGT | |
| NM_000214.3:c.2344+120_2344+121delinsGT MANE Select | NP_000205.1:n.2344+120_2344+121delinsGT |