Linked Data
ClinVar Variation Id:
251835
ClinVar RCV Id:
RCV000238139
dbSNP Id:
rs879254896
MyVariant Identifiers:
chr19:g.11224275_11224276delinsA (hg19)
chr19:g.11113599_11113600delinsA (hg38)
PubMed:
PMID:15241806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113599_11113600delinsA , CM000681.2:g.11113599_11113600delinsA | GRCh38 |
| NC_000019.9:g.11224275_11224276delinsA , CM000681.1:g.11224275_11224276delinsA | GRCh37 |
| NC_000019.8:g.11085275_11085276delinsA | NCBI36 |
| NG_009060.1:g.29219_29220delinsA , LRG_274:g.29219_29220delinsA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1681_1682delinsA | ENSP00000252444.6:p.Ala561ThrfsTer? | |
| ENST00000559340.2:c.1423_1424delinsA | ENSP00000453696.2:p.Ala475ThrfsTer? | |
| ENST00000560467.2:c.1303_1304delinsA | ENSP00000453513.2:p.Ala435ThrfsTer? | |
| ENST00000558518.6:c.1423_1424delinsA MANE Select | ENSP00000454071.1:p.Ala475ThrfsTer? | |
| ENST00000252444.9:c.1677_1678delinsA | ||
| ENST00000455727.6:c.919_920delinsA | ENSP00000397829.2:p.Ala307ThrfsTer? | |
| ENST00000535915.5:c.1300_1301delinsA | ENSP00000440520.1:p.Ala434ThrfsTer? | |
| ENST00000545707.5:c.1042_1043delinsA | ENSP00000437639.1:p.Ala348ThrfsTer? | |
| ENST00000557933.5:c.1423_1424delinsA | ENSP00000453557.1:p.Ala475ThrfsTer? | |
| ENST00000558013.5:c.1423_1424delinsA | ENSP00000453346.1:p.Ala475ThrfsTer? | |
| ENST00000558518.5:c.1423_1424delinsA | ENSP00000454071.1:p.Ala475ThrfsTer? | |
| ENST00000559340.1:c.144_145delinsA | ||
| ENST00000560467.1:c.903_904delinsA | ||
| NM_000527.4:c.1423_1424delinsA , LRG_274t1:c.1423_1424delinsA | NP_000518.1:p.Ala475ThrfsTer? | |
| NM_001195798.1:c.1423_1424delinsA | NP_001182727.1:p.Ala475ThrfsTer? | |
| NM_001195799.1:c.1300_1301delinsA | NP_001182728.1:p.Ala434ThrfsTer? | |
| NM_001195800.1:c.919_920delinsA | NP_001182729.1:p.Ala307ThrfsTer? | |
| NM_001195803.1:c.1042_1043delinsA | NP_001182732.1:p.Ala348ThrfsTer? | |
| XM_011528010.1:c.1423_1424delinsA | XP_011526312.1:p.Ala475ThrfsTer? | |
| XM_011528011.1:c.1042_1043delinsA | XP_011526313.1:p.Ala348ThrfsTer? | |
| XR_244074.2:n.1573_1574delinsA | ||
| XM_011528010.2:c.1423_1424delinsA | XP_011526312.1:p.Ala475ThrfsTer? | |
| XR_001753685.2:n.1540_1541delinsA | ||
| XR_001753686.2:n.1540_1541delinsA | ||
| NM_000527.5:c.1423_1424delinsA MANE Select | NP_000518.1:p.Ala475ThrfsTer? | |
| NM_001195798.2:c.1423_1424delinsA | NP_001182727.1:p.Ala475ThrfsTer? | |
| NM_001195799.2:c.1300_1301delinsA | NP_001182728.1:p.Ala434ThrfsTer? | |
| NM_001195800.2:c.919_920delinsA | NP_001182729.1:p.Ala307ThrfsTer? | |
| NM_001195803.2:c.1042_1043delinsA | NP_001182732.1:p.Ala348ThrfsTer? |