Linked Data
ClinVar Variation Id:
251075
ClinVar RCV Id:
RCV000237552
dbSNP Id:
rs879254435
MyVariant Identifiers:
chr19:g.11213344dupT (hg19)
chr19:g.11213344_11213345insT (hg19)
chr19:g.11102668dupT (hg38)
chr19:g.11102668_11102669insT (hg38)
PubMed:
PMID:24450200
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11102668dup , CM000681.2:g.11102668dup | GRCh38 |
| NC_000019.9:g.11213344dup , CM000681.1:g.11213344dup | GRCh37 |
| NC_000019.8:g.11074344dup | NCBI36 |
| NG_009060.1:g.18288dup , LRG_274:g.18288dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.453dup | ENSP00000252444.6:p.Val152CysfsTer? | |
| ENST00000559340.2:c.195dup | ENSP00000453696.2:p.Val66CysfsTer? | |
| ENST00000560467.2:c.195dup | ENSP00000453513.2:p.Val66CysfsTer? | |
| ENST00000558518.6:c.195dup MANE Select | ENSP00000454071.1:p.Val66CysfsTer? | |
| ENST00000252444.9:c.449dup | ||
| ENST00000455727.6:c.195dup | ENSP00000397829.2:p.Val66CysfsTer? | |
| ENST00000535915.5:c.190+2323dup | ENSP00000440520.1:n.190+2323dup | |
| ENST00000545707.5:c.195dup | ENSP00000437639.1:p.Val66CysfsTer? | |
| ENST00000557933.5:c.195dup | ENSP00000453557.1:p.Val66CysfsTer? | |
| ENST00000557958.1:n.281dup | ||
| ENST00000558013.5:c.195dup | ENSP00000453346.1:p.Val66CysfsTer? | |
| ENST00000558518.5:c.195dup | ENSP00000454071.1:p.Val66CysfsTer? | |
| NM_000527.4:c.195dup , LRG_274t1:c.195dup | NP_000518.1:p.Val66CysfsTer? | |
| NM_001195798.1:c.195dup | NP_001182727.1:p.Val66CysfsTer? | |
| NM_001195799.1:c.190+2323dup | NP_001182728.1:n.190+2323dup | |
| NM_001195800.1:c.195dup | NP_001182729.1:p.Val66CysfsTer? | |
| NM_001195803.1:c.195dup | NP_001182732.1:p.Val66CysfsTer? | |
| XM_011528010.1:c.195dup | XP_011526312.1:p.Val66CysfsTer? | |
| XM_011528011.1:c.195dup | XP_011526313.1:p.Val66CysfsTer? | |
| XR_244074.2:n.345dup | ||
| XM_011528010.2:c.195dup | XP_011526312.1:p.Val66CysfsTer? | |
| XR_001753685.2:n.312dup | ||
| XR_001753686.2:n.312dup | ||
| NM_000527.5:c.195dup MANE Select | NP_000518.1:p.Val66CysfsTer? | |
| NM_001195798.2:c.195dup | NP_001182727.1:p.Val66CysfsTer? | |
| NM_001195799.2:c.190+2323dup | NP_001182728.1:n.190+2323dup | |
| NM_001195800.2:c.195dup | NP_001182729.1:p.Val66CysfsTer? | |
| NM_001195803.2:c.195dup | NP_001182732.1:p.Val66CysfsTer? |