Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955586_19955592delinsACATACT , CM000670.2:g.19955586_19955592delinsACATACT | GRCh38 |
| NC_000008.10:g.19813097_19813103delinsACATACT , CM000670.1:g.19813097_19813103delinsACATACT | GRCh37 |
| NC_000008.9:g.19857377_19857383delinsACATACT | NCBI36 |
| NG_008855.1:g.21516_21522delinsACATACT | |
| NG_008855.2:g.58870_58876delinsACATACT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.776-255_776-249delinsACATACT MANE Select | ENSP00000497642.1:n.776-255_776-249delins... | |
| ENST00000311322.8:c.776-255_776-249delinsACATACT | ENSP00000309757.6:n.776-255_776-249delins... | |
| NM_000237.2:c.776-255_776-249delinsACATACT | NP_000228.1:n.776-255_776-249delinsACATAC... | |
| NM_000237.3:c.776-255_776-249delinsACATACT MANE Select | NP_000228.1:n.776-255_776-249delinsACATAC... |