Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19966942_19966943delinsAG , CM000670.2:g.19966942_19966943delinsAG | GRCh38 |
| NC_000008.10:g.19824453_19824454delinsAG , CM000670.1:g.19824453_19824454delinsAG | GRCh37 |
| NC_000008.9:g.19868733_19868734delinsAG | NCBI36 |
| NG_008855.1:g.32872_32873delinsAG | |
| NG_008855.2:g.70226_70227delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.*1632_*1633delinsAG MANE Select | ENSP00000497642.1:n.*1632_*1633delinsAG | |
| ENST00000650478.1:c.2000_2001delinsAG | ENSP00000497560.1:n.2000_2001delinsAG | |
| ENST00000311322.8:c.*1632_*1633delinsAG | ENSP00000309757.6:n.*1632_*1633delinsAG | |
| NM_000237.2:c.*1632_*1633delinsAG | NP_000228.1:n.*1632_*1633delinsAG | |
| NM_000237.3:c.*1632_*1633delinsAG MANE Select | NP_000228.1:n.*1632_*1633delinsAG |