Linked Data
ClinVar Variation Id:
223203
ClinVar RCV Id:
RCV000208832
dbSNP Id:
rs869025645
MyVariant Identifiers:
chr3:g.10188238_10188239delinsTT (hg19)
chr3:g.10146554_10146555delinsTT (hg38)
CIViC:
CA357088
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146554_10146555delinsTT , CM000665.2:g.10146554_10146555delinsTT | GRCh38 |
| NC_000003.11:g.10188238_10188239delinsTT , CM000665.1:g.10188238_10188239delinsTT | GRCh37 |
| NC_000003.10:g.10163238_10163239delinsTT | NCBI36 |
| NG_008212.3:g.9920_9921delinsTT , LRG_322:g.9920_9921delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*58_*59delinsTT | ENSP00000512434.1:n.*58_*59delinsTT | |
| ENST00000696143.1:c.600-3233_600-3232delinsTT | ENSP00000512435.1:n.600-3233_600-3232deli... | |
| ENST00000696153.1:c.381_382delinsTT | ENSP00000512444.1:p.Leu128Phe | |
| ENST00000256474.3:c.381_382delinsTT MANE Select | ENSP00000256474.3:p.Leu128Phe | |
| ENST00000256474.2:c.381_382delinsTT | ENSP00000256474.2:p.Leu128Phe | |
| ENST00000345392.2:c.341-3233_341-3232delinsTT | ENSP00000344757.2:n.341-3233_341-3232deli... | |
| ENST00000477538.1:n.517_518delinsTT | ||
| NM_000551.3:c.381_382delinsTT , LRG_322t1:c.381_382delinsTT | NP_000542.1:p.Leu128Phe | |
| NM_198156.2:c.341-3233_341-3232delinsTT | NP_937799.1:n.341-3233_341-3232delinsTT | |
| XM_011534078.1:c.*58_*59delinsTT | XP_011532380.1:n.*58_*59delinsTT | |
| NM_001354723.1:c.*18-3233_*18-3232delinsTT | NP_001341652.1:n.*18-3233_*18-3232delinsT... | |
| NM_000551.4:c.381_382delinsTT MANE Select | NP_000542.1:p.Leu128Phe | |
| NM_001354723.2:c.*18-3233_*18-3232delinsTT | NP_001341652.1:n.*18-3233_*18-3232delinsT... | |
| NM_198156.3:c.341-3233_341-3232delinsTT | NP_937799.1:n.341-3233_341-3232delinsTT |