Linked Data
COSMIC:
COSM4517023
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085246_27085247delinsTT , CM000664.2:g.27085246_27085247delinsTT | GRCh38 |
| NC_000002.11:g.27308114_27308115delinsTT , CM000664.1:g.27308114_27308115delinsTT | GRCh37 |
| NC_000002.10:g.27161618_27161619delinsTT | NCBI36 |
| NG_012199.1:g.3504_3505delinsTT | |
| NG_046849.1:g.11680_11681delinsTT | |
| NG_012199.2:g.3504_3505delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2662_2663delinsTT MANE Select | ENSP00000369677.4:p.Pro888Phe | |
| ENST00000380320.8:c.2662_2663delinsTT | ENSP00000369677.4:p.Pro888Phe | |
| ENST00000433140.1:c.654_655delinsTT | ||
| NM_007046.3:c.2662_2663delinsTT | NP_008977.1:p.Pro888Phe | |
| XM_006711928.2:c.2575+238_2575+239delinsTT | XP_006711991.1:n.2575+238_2575+239delinsTT | |
| NM_007046.4:c.2662_2663delinsTT MANE Select | NP_008977.1:p.Pro888Phe |