Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122181_18122184delinsCACG , CM000668.2:g.18122181_18122184delinsCACG | GRCh38 |
| NC_000006.11:g.18122412_18122415delinsCACG , CM000668.1:g.18122412_18122415delinsCACG | GRCh37 |
| NC_000006.10:g.18230391_18230394delinsCACG | NCBI36 |
| NG_016750.1:g.5437_5440delinsCGTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340650.6:c.423_426delinsCGTG MANE Select | ENSP00000345464.3:p.Val141= | |
| ENST00000340650.4:c.423_426delinsCGTG | ENSP00000345464.3:p.Val141= | |
| NM_198586.2:c.423_426delinsCGTG | NP_940988.2:p.Val141= | |
| NM_198586.3:c.423_426delinsCGTG MANE Select | NP_940988.2:p.Val141= |