Linked Data
COSMIC:
COSM143647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50916176_50916177delinsTT , CM000685.2:g.50916176_50916177delinsTT | GRCh38 |
| NC_000023.10:g.50659176_50659177delinsTT , CM000685.1:g.50659176_50659177delinsTT | GRCh37 |
| NC_000023.9:g.50675916_50675917delinsTT | NCBI36 |
| NG_012894.1:g.10393_10394delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.748_749delinsTT MANE Select | ENSP00000252677.3:p.Pro250Phe | |
| ENST00000252677.3:c.748_749delinsTT | ENSP00000252677.3:p.Pro250Phe | |
| NM_005448.2:c.748_749delinsTT MANE Select | NP_005439.2:p.Pro250Phe |