Linked Data
ClinVar Variation Id:
251076
ClinVar RCV Id:
RCV000238455
dbSNP Id:
rs879254436
PubMed:
PMID:23375686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11102672dup , CM000681.2:g.11102672dup | GRCh38 |
| NC_000019.9:g.11213348dup , CM000681.1:g.11213348dup | GRCh37 |
| NC_000019.8:g.11074348dup | NCBI36 |
| NG_009060.1:g.18292dup , LRG_274:g.18292dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.457dup | ENSP00000252444.6:p.Thr153AsnfsTer? | |
| ENST00000559340.2:c.199dup | ENSP00000453696.2:p.Thr67AsnfsTer? | |
| ENST00000560467.2:c.199dup | ENSP00000453513.2:p.Thr67AsnfsTer? | |
| ENST00000558518.6:c.199dup MANE Select | ENSP00000454071.1:p.Thr67AsnfsTer? | |
| ENST00000252444.9:c.453dup | ||
| ENST00000455727.6:c.199dup | ENSP00000397829.2:p.Thr67AsnfsTer? | |
| ENST00000535915.5:c.190+2327dup | ENSP00000440520.1:n.190+2327dup | |
| ENST00000545707.5:c.199dup | ENSP00000437639.1:p.Thr67AsnfsTer? | |
| ENST00000557933.5:c.199dup | ENSP00000453557.1:p.Thr67AsnfsTer? | |
| ENST00000557958.1:n.285dup | ||
| ENST00000558013.5:c.199dup | ENSP00000453346.1:p.Thr67AsnfsTer? | |
| ENST00000558518.5:c.199dup | ENSP00000454071.1:p.Thr67AsnfsTer? | |
| NM_000527.4:c.199dup , LRG_274t1:c.199dup | NP_000518.1:p.Thr67AsnfsTer? | |
| NM_001195798.1:c.199dup | NP_001182727.1:p.Thr67AsnfsTer? | |
| NM_001195799.1:c.190+2327dup | NP_001182728.1:n.190+2327dup | |
| NM_001195800.1:c.199dup | NP_001182729.1:p.Thr67AsnfsTer? | |
| NM_001195803.1:c.199dup | NP_001182732.1:p.Thr67AsnfsTer? | |
| XM_011528010.1:c.199dup | XP_011526312.1:p.Thr67AsnfsTer? | |
| XM_011528011.1:c.199dup | XP_011526313.1:p.Thr67AsnfsTer? | |
| XR_244074.2:n.349dup | ||
| XM_011528010.2:c.199dup | XP_011526312.1:p.Thr67AsnfsTer? | |
| XR_001753685.2:n.316dup | ||
| XR_001753686.2:n.316dup | ||
| NM_000527.5:c.199dup MANE Select | NP_000518.1:p.Thr67AsnfsTer? | |
| NM_001195798.2:c.199dup | NP_001182727.1:p.Thr67AsnfsTer? | |
| NM_001195799.2:c.190+2327dup | NP_001182728.1:n.190+2327dup | |
| NM_001195800.2:c.199dup | NP_001182729.1:p.Thr67AsnfsTer? | |
| NM_001195803.2:c.199dup | NP_001182732.1:p.Thr67AsnfsTer? |