Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888066_20888067delinsTG , CM000684.2:g.20888066_20888067delinsTG | GRCh38 |
| NC_000022.10:g.21242354_21242355delinsTG , CM000684.1:g.21242354_21242355delinsTG | GRCh37 |
| NC_000022.9:g.19572354_19572355delinsTG | NCBI36 |
| NG_012152.1:g.34063_34064delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*230_*231delinsTG MANE Select | ENSP00000215730.6:n.*230_*231delinsTG | |
| ENST00000215730.11:c.*230_*231delinsTG | ENSP00000215730.6:n.*230_*231delinsTG | |
| NM_004782.3:c.*230_*231delinsTG | NP_004773.1:n.*230_*231delinsTG | |
| NM_004782.4:c.*230_*231delinsTG MANE Select | NP_004773.1:n.*230_*231delinsTG |