Linked Data
ClinVar Variation Id:
251371
ClinVar RCV Id:
RCV000237490
dbSNP Id:
rs879254628
MyVariant Identifiers:
chr19:g.11216252_11216257delinsTTT (hg19)
chr19:g.11105576_11105581delinsTTT (hg38)
PubMed:
PMID:22881376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105576_11105581delinsTTT , CM000681.2:g.11105576_11105581delinsTTT | GRCh38 |
| NC_000019.9:g.11216252_11216257delinsTTT , CM000681.1:g.11216252_11216257delinsTTT | GRCh37 |
| NC_000019.8:g.11077252_11077257delinsTTT | NCBI36 |
| NG_009060.1:g.21196_21201delinsTTT , LRG_274:g.21196_21201delinsTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.928_933delinsTTT | ENSP00000252444.6:p.Asp310_Lys311delinsPhe | |
| ENST00000559340.2:c.670_675delinsTTT | ENSP00000453696.2:p.Asp224_Lys225delinsPhe | |
| ENST00000560467.2:c.670_675delinsTTT | ENSP00000453513.2:p.Asp224_Lys225delinsPhe | |
| ENST00000558518.6:c.670_675delinsTTT MANE Select | ENSP00000454071.1:p.Asp224_Lys225delinsPhe | |
| ENST00000252444.9:c.924_929delinsTTT | ||
| ENST00000455727.6:c.314-1816_314-1811delinsTTT | ENSP00000397829.2:n.314-1816_314-1811delinsTTT | |
| ENST00000535915.5:c.547_552delinsTTT | ENSP00000440520.1:p.Asp183_Lys184delinsPhe | |
| ENST00000545707.5:c.314-989_314-984delinsTTT | ENSP00000437639.1:n.314-989_314-984delinsTTT | |
| ENST00000557933.5:c.670_675delinsTTT | ENSP00000453557.1:p.Asp224_Lys225delinsPhe | |
| ENST00000558013.5:c.670_675delinsTTT | ENSP00000453346.1:p.Asp224_Lys225delinsPhe | |
| ENST00000558518.5:c.670_675delinsTTT | ENSP00000454071.1:p.Asp224_Lys225delinsPhe | |
| ENST00000560467.1:c.270_275delinsTTT | ||
| NM_000527.4:c.670_675delinsTTT , LRG_274t1:c.670_675delinsTTT | NP_000518.1:p.Asp224_Lys225delinsPhe | |
| NM_001195798.1:c.670_675delinsTTT | NP_001182727.1:p.Asp224_Lys225delinsPhe | |
| NM_001195799.1:c.547_552delinsTTT | NP_001182728.1:p.Asp183_Lys184delinsPhe | |
| NM_001195800.1:c.314-1816_314-1811delinsTTT | NP_001182729.1:n.314-1816_314-1811delinsTTT | |
| NM_001195803.1:c.314-989_314-984delinsTTT | NP_001182732.1:n.314-989_314-984delinsTTT | |
| XM_011528010.1:c.670_675delinsTTT | XP_011526312.1:p.Asp224_Lys225delinsPhe | |
| XM_011528011.1:c.314-989_314-984delinsTTT | XP_011526313.1:n.314-989_314-984delinsTTT | |
| XR_244074.2:n.820_825delinsTTT | ||
| XM_011528010.2:c.670_675delinsTTT | XP_011526312.1:p.Asp224_Lys225delinsPhe | |
| XR_001753685.2:n.787_792delinsTTT | ||
| XR_001753686.2:n.787_792delinsTTT | ||
| NM_000527.5:c.670_675delinsTTT MANE Select | NP_000518.1:p.Asp224_Lys225delinsPhe | |
| NM_001195798.2:c.670_675delinsTTT | NP_001182727.1:p.Asp224_Lys225delinsPhe | |
| NM_001195799.2:c.547_552delinsTTT | NP_001182728.1:p.Asp183_Lys184delinsPhe | |
| NM_001195800.2:c.314-1816_314-1811delinsTTT | NP_001182729.1:n.314-1816_314-1811delinsTTT | |
| NM_001195803.2:c.314-989_314-984delinsTTT | NP_001182732.1:n.314-989_314-984delinsTTT |