Linked Data
ClinVar Variation Id:
252346
ClinVar RCV Id:
RCV000238554
dbSNP Id:
rs879255219
MyVariant Identifiers:
chr19:g.11240299_11240301delinsC (hg19)
chr19:g.11129623_11129625delinsC (hg38)
PubMed:
PMID:26343872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129623_11129625delinsC , CM000681.2:g.11129623_11129625delinsC | GRCh38 |
| NC_000019.9:g.11240299_11240301delinsC , CM000681.1:g.11240299_11240301delinsC | GRCh37 |
| NC_000019.8:g.11101299_11101301delinsC | NCBI36 |
| NG_009060.1:g.45243_45245delinsC , LRG_274:g.45243_45245delinsC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2758_2760delinsC | ENSP00000252444.6:p.Asp920ArgfsTer24 | |
| ENST00000559340.2:c.*569_*571delinsC | ENSP00000453696.2:n.*569_*571delinsC | |
| ENST00000560467.2:c.2380_2382delinsC | ENSP00000453513.2:p.Asp794ArgfsTer24 | |
| ENST00000558518.6:c.2500_2502delinsC MANE Select | ENSP00000454071.1:p.Asp834ArgfsTer24 | |
| ENST00000252444.9:c.2754_2756delinsC | ||
| ENST00000455727.6:c.1996_1998delinsC | ENSP00000397829.2:p.Asp666ArgfsTer24 | |
| ENST00000535915.5:c.2377_2379delinsC | ENSP00000440520.1:p.Asp793ArgfsTer24 | |
| ENST00000545707.5:c.1966_1968delinsC | ENSP00000437639.1:p.Asp656ArgfsTer24 | |
| ENST00000557933.5:c.2562_2564delinsC | ENSP00000453557.1:p.Arg854SerfsTer28 | |
| ENST00000558013.5:c.2500_2502delinsC | ENSP00000453346.1:p.Asp834ArgfsTer22 | |
| ENST00000558518.5:c.2500_2502delinsC | ENSP00000454071.1:p.Asp834ArgfsTer24 | |
| ENST00000560628.1:n.108+1969_108+1971delinsC | ||
| NM_000527.4:c.2500_2502delinsC , LRG_274t1:c.2500_2502delinsC | NP_000518.1:p.Asp834ArgfsTer24 | |
| NM_001195798.1:c.2500_2502delinsC | NP_001182727.1:p.Asp834ArgfsTer22 | |
| NM_001195799.1:c.2377_2379delinsC | NP_001182728.1:p.Asp793ArgfsTer24 | |
| NM_001195800.1:c.1996_1998delinsC | NP_001182729.1:p.Asp666ArgfsTer24 | |
| NM_001195803.1:c.1966_1968delinsC | NP_001182732.1:p.Asp656ArgfsTer24 | |
| XM_011528010.1:c.2422_2424delinsC | XP_011526312.1:p.Asp808ArgfsTer24 | |
| XM_011528011.1:c.2119_2121delinsC | XP_011526313.1:p.Asp707ArgfsTer24 | |
| XM_011528010.2:c.2422_2424delinsC | XP_011526312.1:p.Asp808ArgfsTer24 | |
| XR_001753685.2:n.2834_2836delinsC | ||
| XR_001753686.2:n.2477_2479delinsC | ||
| NM_000527.5:c.2500_2502delinsC MANE Select | NP_000518.1:p.Asp834ArgfsTer24 | |
| NM_001195798.2:c.2500_2502delinsC | NP_001182727.1:p.Asp834ArgfsTer22 | |
| NM_001195799.2:c.2377_2379delinsC | NP_001182728.1:p.Asp793ArgfsTer24 | |
| NM_001195800.2:c.1996_1998delinsC | NP_001182729.1:p.Asp666ArgfsTer24 | |
| NM_001195803.2:c.1966_1968delinsC | NP_001182732.1:p.Asp656ArgfsTer24 |