Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19957634_19957635delinsAG , CM000670.2:g.19957634_19957635delinsAG | GRCh38 |
| NC_000008.10:g.19815145_19815146delinsAG , CM000670.1:g.19815145_19815146delinsAG | GRCh37 |
| NC_000008.9:g.19859425_19859426delinsAG | NCBI36 |
| NG_008855.1:g.23564_23565delinsAG | |
| NG_008855.2:g.60918_60919delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1018+1551_1018+1552delinsAG MANE Select | ENSP00000497642.1:n.1018+1551_1018+1552de... | |
| ENST00000650478.1:c.79+1551_79+1552delinsAG | ENSP00000497560.1:n.79+1551_79+1552delins... | |
| ENST00000311322.8:c.1018+1551_1018+1552delinsAG | ENSP00000309757.6:n.1018+1551_1018+1552de... | |
| NM_000237.2:c.1018+1551_1018+1552delinsAG | NP_000228.1:n.1018+1551_1018+1552delinsAG... | |
| NM_000237.3:c.1018+1551_1018+1552delinsAG MANE Select | NP_000228.1:n.1018+1551_1018+1552delinsAG... |