Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145569_6145570delinsCA , CM000668.2:g.6145569_6145570delinsCA | GRCh38 |
| NC_000006.11:g.6145802_6145803delinsCA , CM000668.1:g.6145802_6145803delinsCA | GRCh37 |
| NC_000006.10:g.6090801_6090802delinsCA | NCBI36 |
| NG_008107.1:g.180122_180123delinsTG , LRG_549:g.180122_180123delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.*49_*50delinsTG MANE Select | ENSP00000264870.3:n.*49_*50delinsTG | |
| ENST00000264870.7:c.*49_*50delinsTG | ENSP00000264870.3:n.*49_*50delinsTG | |
| NM_000129.3:c.*49_*50delinsTG , LRG_549t1:c.*49_*50delinsTG | NP_000120.2:n.*49_*50delinsTG | |
| XM_006715010.2:c.*49_*50delinsTG | XP_006715073.1:n.*49_*50delinsTG | |
| XM_011514342.1:c.*49_*50delinsTG | XP_011512644.1:n.*49_*50delinsTG | |
| NM_000129.4:c.*49_*50delinsTG MANE Select | NP_000120.2:n.*49_*50delinsTG |