Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119676850_119676851delinsGT , CM000672.2:g.119676850_119676851delinsGT | GRCh38 |
| NC_000010.10:g.121436362_121436363delinsGT , CM000672.1:g.121436362_121436363delinsGT | GRCh37 |
| NC_000010.9:g.121426352_121426353delinsGT | NCBI36 |
| NG_016125.1:g.30481_30482delinsGT , LRG_742:g.30481_30482delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.1296_1297delinsGT MANE Select | ENSP00000358081.4:p.Val433Ter | |
| ENST00000369085.7:c.1296_1297delinsGT | ENSP00000358081.3:p.Val433Ter | |
| NM_004281.3:c.1296_1297delinsGT , LRG_742t1:c.1296_1297delinsGT | NP_004272.2:p.Val433Ter | |
| XM_005270287.1:c.1293_1294delinsGT | XP_005270344.1:p.Val432Ter | |
| XM_005270287.2:c.1293_1294delinsGT | XP_005270344.1:p.Val432Ter | |
| NM_004281.4:c.1296_1297delinsGT MANE Select | NP_004272.2:p.Val433Ter |