Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.53051665_53051673delinsCTAAGACTA , CM000675.2:g.53051665_53051673delinsCTAAGACTA | GRCh38 |
| NC_000013.10:g.53625800_53625808delinsCTAAGACTA , CM000675.1:g.53625800_53625808delinsCTAAGACTA | GRCh37 |
| NC_000013.9:g.52523801_52523809delinsCTAAGACTA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219022.3:c.*894_*902delinsCTAAGACTA MANE Select | ENSP00000219022.2:n.*894_*902delinsCTAAGA... | |
| ENST00000219022.2:c.*894_*902delinsCTAAGACTA | ENSP00000219022.2:n.*894_*902delinsCTAAGA... | |
| NM_006418.4:c.*894_*902delinsCTAAGACTA | NP_006409.3:n.*894_*902delinsCTAAGACTA | |
| NM_006418.5:c.*894_*902delinsCTAAGACTA MANE Select | NP_006409.3:n.*894_*902delinsCTAAGACTA |