Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038296_52038297delinsCT , CM000666.2:g.52038296_52038297delinsCT | GRCh38 |
| NC_000004.11:g.52904462_52904463delinsCT , CM000666.1:g.52904462_52904463delinsCT | GRCh37 |
| NC_000004.10:g.52599219_52599220delinsCT | NCBI36 |
| NG_008891.1:g.5023_5024delinsAG , LRG_204:g.5023_5024delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.-38_-37delinsAG MANE Select | ENSP00000370839.6:n.-38_-37delinsAG | |
| ENST00000381431.9:c.-38_-37delinsAG | ENSP00000370839.5:n.-38_-37delinsAG | |
| NM_000232.4:c.-38_-37delinsAG , LRG_204t1:c.-38_-37delinsAG | NP_000223.1:n.-38_-37delinsAG | |
| XM_011534403.1:c.-38_-37delinsAG | XP_011532705.1:n.-38_-37delinsAG | |
| NM_000232.5:c.-38_-37delinsAG MANE Select | NP_000223.1:n.-38_-37delinsAG |