Linked Data
ClinVar Variation Id:
252344
ClinVar RCV Id:
RCV000237430
dbSNP Id:
rs747344293
MyVariant Identifiers:
chr19:g.11240277dupC (hg19)
chr19:g.11240277_11240278insC (hg19)
chr19:g.11129601dupC (hg38)
chr19:g.11129601_11129602insC (hg38)
PubMed:
PMID:11810272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129601dup , CM000681.2:g.11129601dup | GRCh38 |
| NC_000019.9:g.11240277dup , CM000681.1:g.11240277dup | GRCh37 |
| NC_000019.8:g.11101277dup | NCBI36 |
| NG_009060.1:g.45221dup , LRG_274:g.45221dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2736dup | ENSP00000252444.6:p.Val913ArgfsTer9 | |
| ENST00000559340.2:c.*547dup | ENSP00000453696.2:n.*547dup | |
| ENST00000560467.2:c.2358dup | ENSP00000453513.2:p.Val787ArgfsTer9 | |
| ENST00000558518.6:c.2478dup MANE Select | ENSP00000454071.1:p.Val827ArgfsTer9 | |
| ENST00000252444.9:c.2732dup | ||
| ENST00000455727.6:c.1974dup | ENSP00000397829.2:p.Val659ArgfsTer9 | |
| ENST00000535915.5:c.2355dup | ENSP00000440520.1:p.Val786ArgfsTer9 | |
| ENST00000545707.5:c.1944dup | ENSP00000437639.1:p.Val649ArgfsTer9 | |
| ENST00000557933.5:c.2540dup | ENSP00000453557.1:p.Ser848ValfsTer? | |
| ENST00000558013.5:c.2478dup | ENSP00000453346.1:p.Val827ArgfsTer9 | |
| ENST00000558518.5:c.2478dup | ENSP00000454071.1:p.Val827ArgfsTer9 | |
| ENST00000560628.1:n.108+1947dup | ||
| NM_000527.4:c.2478dup , LRG_274t1:c.2478dup | NP_000518.1:p.Val827ArgfsTer9 | |
| NM_001195798.1:c.2478dup | NP_001182727.1:p.Val827ArgfsTer9 | |
| NM_001195799.1:c.2355dup | NP_001182728.1:p.Val786ArgfsTer9 | |
| NM_001195800.1:c.1974dup | NP_001182729.1:p.Val659ArgfsTer9 | |
| NM_001195803.1:c.1944dup | NP_001182732.1:p.Val649ArgfsTer9 | |
| XM_011528010.1:c.2400dup | XP_011526312.1:p.Val801ArgfsTer9 | |
| XM_011528011.1:c.2097dup | XP_011526313.1:p.Val700ArgfsTer9 | |
| XM_011528010.2:c.2400dup | XP_011526312.1:p.Val801ArgfsTer9 | |
| XR_001753685.2:n.2812dup | ||
| XR_001753686.2:n.2455dup | ||
| NM_000527.5:c.2478dup MANE Select | NP_000518.1:p.Val827ArgfsTer9 | |
| NM_001195798.2:c.2478dup | NP_001182727.1:p.Val827ArgfsTer9 | |
| NM_001195799.2:c.2355dup | NP_001182728.1:p.Val786ArgfsTer9 | |
| NM_001195800.2:c.1974dup | NP_001182729.1:p.Val659ArgfsTer9 | |
| NM_001195803.2:c.1944dup | NP_001182732.1:p.Val649ArgfsTer9 |