Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19957695_19957696delinsTG , CM000670.2:g.19957695_19957696delinsTG | GRCh38 |
| NC_000008.10:g.19815206_19815207delinsTG , CM000670.1:g.19815206_19815207delinsTG | GRCh37 |
| NC_000008.9:g.19859486_19859487delinsTG | NCBI36 |
| NG_008855.1:g.23625_23626delinsTG | |
| NG_008855.2:g.60979_60980delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1019-1565_1019-1564delinsTG MANE Select | ENSP00000497642.1:n.1019-1565_1019-1564delinsTG | |
| ENST00000650478.1:c.79+1612_79+1613delinsTG | ENSP00000497560.1:n.79+1612_79+1613delinsTG | |
| ENST00000311322.8:c.1019-1565_1019-1564delinsTG | ENSP00000309757.6:n.1019-1565_1019-1564delinsTG | |
| NM_000237.2:c.1019-1565_1019-1564delinsTG | NP_000228.1:n.1019-1565_1019-1564delinsTG | |
| NM_000237.3:c.1019-1565_1019-1564delinsTG MANE Select | NP_000228.1:n.1019-1565_1019-1564delinsTG |