Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122179_18122180delinsAC , CM000668.2:g.18122179_18122180delinsAC | GRCh38 |
| NC_000006.11:g.18122410_18122411delinsAC , CM000668.1:g.18122410_18122411delinsAC | GRCh37 |
| NC_000006.10:g.18230389_18230390delinsAC | NCBI36 |
| NG_016750.1:g.5441_5442delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340650.6:c.427_428delinsGT MANE Select | ENSP00000345464.3:p.Val143= | |
| ENST00000340650.4:c.427_428delinsGT | ENSP00000345464.3:p.Val143= | |
| NM_198586.2:c.427_428delinsGT | NP_940988.2:p.Val143= | |
| NM_198586.3:c.427_428delinsGT MANE Select | NP_940988.2:p.Val143= |