Linked Data
ClinVar Variation Id:
376104
ClinVar RCV Id:
RCV000439080
dbSNP Id:
rs1057519763
COSMIC:
COSM19844
PubMed:
PMID:22504184
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018504_28018505delinsAA , CM000675.2:g.28018504_28018505delinsAA | GRCh38 |
| NC_000013.10:g.28592641_28592642delinsAA , CM000675.1:g.28592641_28592642delinsAA | GRCh37 |
| NC_000013.9:g.27490641_27490642delinsAA | NCBI36 |
| NG_007066.1:g.87064_87065delinsTT , LRG_457:g.87064_87065delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241453.12:c.2503_2504delinsTT MANE Select | ENSP00000241453.7:p.Asp835Phe | |
| ENST00000241453.11:c.2503_2504delinsTT | ENSP00000241453.7:p.Asp835Phe | |
| ENST00000380987.2:c.*415_*416delinsTT | ENSP00000370374.2:n.*415_*416delinsTT | |
| NM_004119.2:c.2503_2504delinsTT , LRG_457t1:c.2503_2504delinsTT | NP_004110.2:p.Asp835Phe | |
| NR_130706.1:n.2717_2718delinsTT | ||
| XM_011535015.1:c.2446_2447delinsTT | XP_011533317.1:p.Asp816Phe | |
| XM_011535016.1:c.1978_1979delinsTT | XP_011533318.1:p.Asp660Phe | |
| XM_011535017.1:c.1978_1979delinsTT | XP_011533319.1:p.Asp660Phe | |
| XM_011535018.1:c.1978_1979delinsTT | XP_011533320.1:p.Asp660Phe | |
| XM_011535015.2:c.2446_2447delinsTT | XP_011533317.1:p.Asp816Phe | |
| XM_011535017.2:c.1978_1979delinsTT | XP_011533319.1:p.Asp660Phe | |
| XM_011535018.2:c.1978_1979delinsTT | XP_011533320.1:p.Asp660Phe | |
| XM_017020486.1:c.2287_2288delinsTT | XP_016875975.1:p.Asp763Phe | |
| XM_017020487.1:c.1978_1979delinsTT | XP_016875976.1:p.Asp660Phe | |
| XM_017020488.1:c.1624_1625delinsTT | XP_016875977.1:p.Asp542Phe | |
| XM_017020489.1:c.1606_1607delinsTT | XP_016875978.1:p.Asp536Phe | |
| NM_004119.3:c.2503_2504delinsTT MANE Select | NP_004110.2:p.Asp835Phe | |
| NR_130706.2:n.2701_2702delinsTT |