COSMIC:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43120120_43120121delinsTT , CM000672.2:g.43120120_43120121delinsTT | GRCh38 |
| NC_000010.10:g.43615568_43615569delinsTT , CM000672.1:g.43615568_43615569delinsTT | GRCh37 |
| NC_000010.9:g.42935574_42935575delinsTT | NCBI36 |
| NG_007489.1:g.48052_48053delinsTT , LRG_518:g.48052_48053delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2251_2252delinsTT | ENSP00000480088.2:p.Ala751Phe | |
| ENST00000683007.1:n.2221_2222delinsTT | ||
| ENST00000683872.1:n.2212_2213delinsTT | ||
| ENST00000340058.6:c.2647_2648delinsTT | ENSP00000344798.4:p.Ala883Phe | |
| ENST00000355710.8:c.2647_2648delinsTT MANE Select | ENSP00000347942.3:p.Ala883Phe | |
| ENST00000671844.1:c.*1241_*1242delinsTT | ENSP00000500541.1:n.*1241_*1242delinsTT | |
| ENST00000672389.1:c.*1241_*1242delinsTT | ENSP00000500252.1:n.*1241_*1242delinsTT | |
| ENST00000340058.5:c.2647_2648delinsTT | ENSP00000344798.4:p.Ala883Phe | |
| ENST00000355710.7:c.2647_2648delinsTT | ENSP00000347942.3:p.Ala883Phe | |
| ENST00000615310.4:c.1373_1374delinsTT | ENSP00000480088.1:p.Ser458Ile | |
| NM_020630.4:c.2647_2648delinsTT , LRG_518t2:c.2647_2648delinsTT | NP_065681.1:p.Ala883Phe | |
| NM_020975.4:c.2647_2648delinsTT , LRG_518t1:c.2647_2648delinsTT | NP_066124.1:p.Ala883Phe | |
| XM_011540027.1:c.2647_2648delinsTT | XP_011538329.1:p.Ala883Phe | |
| NM_001355216.1:c.1885_1886delinsTT | NP_001342145.1:p.Ala629Phe | |
| NM_020630.5:c.2647_2648delinsTT | NP_065681.1:p.Ala883Phe | |
| NM_020975.5:c.2647_2648delinsTT | NP_066124.1:p.Ala883Phe | |
| NM_020975.6:c.2647_2648delinsTT MANE Select | NP_066124.1:p.Ala883Phe | |
| NM_020630.6:c.2647_2648delinsTT | NP_065681.1:p.Ala883Phe |