Linked Data
ClinVar Variation Id:
251341
ClinVar RCV Id:
RCV000237582
dbSNP Id:
rs879254607
MyVariant Identifiers:
chr19:g.11216225_11216226insATCCACTCAGCTGGC (hg19)
chr19:g.11105549_11105550insATCCACTCAGCTGGC (hg38)
PubMed:
PMID:23815734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105549_11105550insATCCACTCAGCTGGC , CM000681.2:g.11105549_11105550insATCCACTCAGCTGGC | GRCh38 |
| NC_000019.9:g.11216225_11216226insATCCACTCAGCTGGC , CM000681.1:g.11216225_11216226insATCCACTCAGCTGGC | GRCh37 |
| NC_000019.8:g.11077225_11077226insATCCACTCAGCTGGC | NCBI36 |
| NG_009060.1:g.21169_21170insATCCACTCAGCTGGC , LRG_274:g.21169_21170insATCCACTCAGCTGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.901_902insATCCACTCAGCTGGC | ENSP00000252444.6:p.Trp300_Arg301insHisProLeuSerTrp | |
| ENST00000559340.2:c.643_644insATCCACTCAGCTGGC | ENSP00000453696.2:p.Trp214_Arg215insHisProLeuSerTrp | |
| ENST00000560467.2:c.643_644insATCCACTCAGCTGGC | ENSP00000453513.2:p.Trp214_Arg215insHisProLeuSerTrp | |
| ENST00000558518.6:c.643_644insATCCACTCAGCTGGC MANE Select | ENSP00000454071.1:p.Trp214_Arg215insHisProLeuSerTrp | |
| ENST00000252444.9:c.897_898insATCCACTCAGCTGGC | ||
| ENST00000455727.6:c.314-1843_314-1842insATCCACTCAGCTGGC | ENSP00000397829.2:n.314-1843_314-1842insATCCACTCAGCTGGC | |
| ENST00000535915.5:c.520_521insATCCACTCAGCTGGC | ENSP00000440520.1:p.Trp173_Arg174insHisProLeuSerTrp | |
| ENST00000545707.5:c.314-1016_314-1015insATCCACTCAGCTGGC | ENSP00000437639.1:n.314-1016_314-1015insATCCACTCAGCTGGC | |
| ENST00000557933.5:c.643_644insATCCACTCAGCTGGC | ENSP00000453557.1:p.Trp214_Arg215insHisProLeuSerTrp | |
| ENST00000558013.5:c.643_644insATCCACTCAGCTGGC | ENSP00000453346.1:p.Trp214_Arg215insHisProLeuSerTrp | |
| ENST00000558518.5:c.643_644insATCCACTCAGCTGGC | ENSP00000454071.1:p.Trp214_Arg215insHisProLeuSerTrp | |
| ENST00000560467.1:c.243_244insATCCACTCAGCTGGC | ||
| NM_000527.4:c.643_644insATCCACTCAGCTGGC , LRG_274t1:c.643_644insATCCACTCAGCTGGC | NP_000518.1:p.Trp214_Arg215insHisProLeuSerTrp | |
| NM_001195798.1:c.643_644insATCCACTCAGCTGGC | NP_001182727.1:p.Trp214_Arg215insHisProLeuSerTrp | |
| NM_001195799.1:c.520_521insATCCACTCAGCTGGC | NP_001182728.1:p.Trp173_Arg174insHisProLeuSerTrp | |
| NM_001195800.1:c.314-1843_314-1842insATCCACTCAGCTGGC | NP_001182729.1:n.314-1843_314-1842insATCCACTCAGCTGGC | |
| NM_001195803.1:c.314-1016_314-1015insATCCACTCAGCTGGC | NP_001182732.1:n.314-1016_314-1015insATCCACTCAGCTGGC | |
| XM_011528010.1:c.643_644insATCCACTCAGCTGGC | XP_011526312.1:p.Trp214_Arg215insHisProLeuSerTrp | |
| XM_011528011.1:c.314-1016_314-1015insATCCACTCAGCTGGC | XP_011526313.1:n.314-1016_314-1015insATCCACTCAGCTGGC | |
| XR_244074.2:n.793_794insATCCACTCAGCTGGC | ||
| XM_011528010.2:c.643_644insATCCACTCAGCTGGC | XP_011526312.1:p.Trp214_Arg215insHisProLeuSerTrp | |
| XR_001753685.2:n.760_761insATCCACTCAGCTGGC | ||
| XR_001753686.2:n.760_761insATCCACTCAGCTGGC | ||
| NM_000527.5:c.643_644insATCCACTCAGCTGGC MANE Select | NP_000518.1:p.Trp214_Arg215insHisProLeuSerTrp | |
| NM_001195798.2:c.643_644insATCCACTCAGCTGGC | NP_001182727.1:p.Trp214_Arg215insHisProLeuSerTrp | |
| NM_001195799.2:c.520_521insATCCACTCAGCTGGC | NP_001182728.1:p.Trp173_Arg174insHisProLeuSerTrp | |
| NM_001195800.2:c.314-1843_314-1842insATCCACTCAGCTGGC | NP_001182729.1:n.314-1843_314-1842insATCCACTCAGCTGGC | |
| NM_001195803.2:c.314-1016_314-1015insATCCACTCAGCTGGC | NP_001182732.1:n.314-1016_314-1015insATCCACTCAGCTGGC |