Linked Data
ClinVar Variation Id:
251729
ClinVar RCV Id:
RCV000237934
dbSNP Id:
rs879254828
PubMed:
PMID:15241806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113296dup , CM000681.2:g.11113296dup | GRCh38 |
| NC_000019.9:g.11223972dup , CM000681.1:g.11223972dup | GRCh37 |
| NC_000019.8:g.11084972dup | NCBI36 |
| NG_009060.1:g.28916dup , LRG_274:g.28916dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1463dup | ENSP00000252444.6:p.Phe489LeufsTer? | |
| ENST00000559340.2:c.1205dup | ENSP00000453696.2:p.Phe403LeufsTer? | |
| ENST00000560467.2:c.1085dup | ENSP00000453513.2:p.Phe363LeufsTer? | |
| ENST00000558518.6:c.1205dup MANE Select | ENSP00000454071.1:p.Phe403LeufsTer? | |
| ENST00000252444.9:c.1459dup | ||
| ENST00000455727.6:c.701dup | ENSP00000397829.2:p.Phe235LeufsTer? | |
| ENST00000535915.5:c.1082dup | ENSP00000440520.1:p.Phe362LeufsTer? | |
| ENST00000545707.5:c.824dup | ENSP00000437639.1:p.Phe276LeufsTer? | |
| ENST00000557933.5:c.1205dup | ENSP00000453557.1:p.Phe403LeufsTer? | |
| ENST00000558013.5:c.1205dup | ENSP00000453346.1:p.Phe403LeufsTer? | |
| ENST00000558518.5:c.1205dup | ENSP00000454071.1:p.Phe403LeufsTer? | |
| ENST00000560173.1:n.204dup | ||
| ENST00000560467.1:c.685dup | ||
| NM_000527.4:c.1205dup , LRG_274t1:c.1205dup | NP_000518.1:p.Phe403LeufsTer? | |
| NM_001195798.1:c.1205dup | NP_001182727.1:p.Phe403LeufsTer? | |
| NM_001195799.1:c.1082dup | NP_001182728.1:p.Phe362LeufsTer? | |
| NM_001195800.1:c.701dup | NP_001182729.1:p.Phe235LeufsTer? | |
| NM_001195803.1:c.824dup | NP_001182732.1:p.Phe276LeufsTer? | |
| XM_011528010.1:c.1205dup | XP_011526312.1:p.Phe403LeufsTer? | |
| XM_011528011.1:c.824dup | XP_011526313.1:p.Phe276LeufsTer? | |
| XR_244074.2:n.1355dup | ||
| XM_011528010.2:c.1205dup | XP_011526312.1:p.Phe403LeufsTer? | |
| XR_001753685.2:n.1322dup | ||
| XR_001753686.2:n.1322dup | ||
| NM_000527.5:c.1205dup MANE Select | NP_000518.1:p.Phe403LeufsTer? | |
| NM_001195798.2:c.1205dup | NP_001182727.1:p.Phe403LeufsTer? | |
| NM_001195799.2:c.1082dup | NP_001182728.1:p.Phe362LeufsTer? | |
| NM_001195800.2:c.701dup | NP_001182729.1:p.Phe235LeufsTer? | |
| NM_001195803.2:c.824dup | NP_001182732.1:p.Phe276LeufsTer? |