Linked Data
ClinVar Variation Id:
251416
ClinVar RCV Id:
RCV000237796
dbSNP Id:
rs1555803643
MyVariant Identifiers:
chr19:g.11217249dupA (hg19)
chr19:g.11217249_11217250insA (hg19)
chr19:g.11106573dupA (hg38)
chr19:g.11106573_11106574insA (hg38)
PubMed:
PMID:17142622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11106573dup , CM000681.2:g.11106573dup | GRCh38 |
| NC_000019.9:g.11217249dup , CM000681.1:g.11217249dup | GRCh37 |
| NC_000019.8:g.11078249dup | NCBI36 |
| NG_009060.1:g.22193dup , LRG_274:g.22193dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.961dup | ENSP00000252444.6:p.Thr321AsnfsTer5 | |
| ENST00000559340.2:c.703dup | ENSP00000453696.2:p.Thr235AsnfsTer5 | |
| ENST00000560467.2:c.703dup | ENSP00000453513.2:p.Thr235AsnfsTer5 | |
| ENST00000558518.6:c.703dup MANE Select | ENSP00000454071.1:p.Thr235AsnfsTer5 | |
| ENST00000252444.9:c.957dup | ||
| ENST00000455727.6:c.314-819dup | ENSP00000397829.2:n.314-819dup | |
| ENST00000535915.5:c.580dup | ENSP00000440520.1:p.Thr194AsnfsTer5 | |
| ENST00000545707.5:c.322dup | ENSP00000437639.1:p.Thr108AsnfsTer5 | |
| ENST00000557933.5:c.703dup | ENSP00000453557.1:p.Thr235AsnfsTer5 | |
| ENST00000558013.5:c.703dup | ENSP00000453346.1:p.Thr235AsnfsTer5 | |
| ENST00000558518.5:c.703dup | ENSP00000454071.1:p.Thr235AsnfsTer5 | |
| ENST00000558528.1:n.218dup | ||
| ENST00000560467.1:c.303dup | ||
| NM_000527.4:c.703dup , LRG_274t1:c.703dup | NP_000518.1:p.Thr235AsnfsTer5 | |
| NM_001195798.1:c.703dup | NP_001182727.1:p.Thr235AsnfsTer5 | |
| NM_001195799.1:c.580dup | NP_001182728.1:p.Thr194AsnfsTer5 | |
| NM_001195800.1:c.314-819dup | NP_001182729.1:n.314-819dup | |
| NM_001195803.1:c.322dup | NP_001182732.1:p.Thr108AsnfsTer5 | |
| XM_011528010.1:c.703dup | XP_011526312.1:p.Thr235AsnfsTer5 | |
| XM_011528011.1:c.322dup | XP_011526313.1:p.Thr108AsnfsTer5 | |
| XR_244074.2:n.853dup | ||
| XM_011528010.2:c.703dup | XP_011526312.1:p.Thr235AsnfsTer5 | |
| XR_001753685.2:n.820dup | ||
| XR_001753686.2:n.820dup | ||
| NM_000527.5:c.703dup MANE Select | NP_000518.1:p.Thr235AsnfsTer5 | |
| NM_001195798.2:c.703dup | NP_001182727.1:p.Thr235AsnfsTer5 | |
| NM_001195799.2:c.580dup | NP_001182728.1:p.Thr194AsnfsTer5 | |
| NM_001195800.2:c.314-819dup | NP_001182729.1:n.314-819dup | |
| NM_001195803.2:c.322dup | NP_001182732.1:p.Thr108AsnfsTer5 |