Linked Data
dbSNP Id:
rs2058371205
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753551_64753569dup , CM000673.2:g.64753551_64753569dup | GRCh38 |
| NC_000011.9:g.64521023_64521041dup , CM000673.1:g.64521023_64521041dup | GRCh37 |
| NC_000011.8:g.64277599_64277617dup | NCBI36 |
| NG_013018.1:g.12150_12168dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1356_1374dup MANE Select | ENSP00000164139.3:p.Ile459ArgfsTer22 | |
| ENST00000164139.3:c.1356_1374dup | ENSP00000164139.3:p.Ile459ArgfsTer22 | |
| ENST00000377432.7:c.1092_1110dup | ENSP00000366650.3:p.Ile371ArgfsTer22 | |
| NM_001164716.1:c.1092_1110dup | NP_001158188.1:p.Ile371ArgfsTer22 | |
| NM_005609.2:c.1356_1374dup | NP_005600.1:p.Ile459ArgfsTer22 | |
| NM_005609.3:c.1356_1374dup | NP_005600.1:p.Ile459ArgfsTer22 | |
| NM_005609.4:c.1356_1374dup MANE Select | NP_005600.1:p.Ile459ArgfsTer22 |