Linked Data
ClinVar Variation Id:
267034
ClinVar RCV Id:
RCV000257062
dbSNP Id:
rs886040728
MyVariant Identifiers:
chr13:g.32932023_32932027dupATACC (hg19)
chr13:g.32357886_32357890dupATACC (hg38)
PubMed:
PMID:24156927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32357886_32357890dup , CM000675.2:g.32357886_32357890dup | GRCh38 |
| NC_000013.10:g.32932023_32932027dup , CM000675.1:g.32932023_32932027dup | GRCh37 |
| NC_000013.9:g.31830023_31830027dup | NCBI36 |
| NG_012772.3:g.47407_47411dup , LRG_293:g.47407_47411dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7762_7766dup | ENSP00000434898.2:p.Ser2590TyrfsTer? | |
| ENST00000528762.2:c.7762_7766dup | ENSP00000433168.2:p.Ser2590TyrfsTer? | |
| ENST00000530893.7:c.7393_7397dup | ENSP00000499438.2:p.Ser2467TyrfsTer? | |
| ENST00000665585.2:c.7762_7766dup | ENSP00000499570.2:p.Ser2590TyrfsTer? | |
| ENST00000666593.2:c.7762_7766dup | ENSP00000499256.2:p.Ser2590TyrfsTer? | |
| ENST00000700202.2:c.7762_7766dup | ENSP00000514856.2:p.Ser2590TyrfsTer? | |
| ENST00000700202.1:c.229_233dup | ENSP00000514856.1:p.Ser79TyrfsTer? | |
| ENST00000380152.8:c.7762_7766dup MANE Select | ENSP00000369497.3:p.Ser2590TyrfsTer? | |
| ENST00000544455.6:c.7762_7766dup | ENSP00000439902.1:p.Ser2590TyrfsTer? | |
| ENST00000614259.2:c.7762_7766dup | ENSP00000506251.1:p.Ser2590TyrfsTer21 | |
| ENST00000665585.1:c.327_331dup | ||
| ENST00000680887.1:c.7762_7766dup | ENSP00000505508.1:p.Ser2590TyrfsTer? | |
| ENST00000380152.7:c.7762_7766dup | ENSP00000369497.3:p.Ser2590TyrfsTer? | |
| ENST00000544455.5:c.7762_7766dup | ENSP00000439902.1:p.Ser2590TyrfsTer? | |
| ENST00000614259.1:n.7762_7766dup | ||
| NM_000059.3:c.7762_7766dup , LRG_293t1:c.7762_7766dup | NP_000050.2:p.Ser2590TyrfsTer? | |
| XM_011535203.1:c.7762_7766dup | XP_011533505.1:p.Ser2590TyrfsTer? | |
| XM_011535204.1:c.7666_7670dup | XP_011533506.1:p.Ser2558TyrfsTer? | |
| XM_011535205.1:c.7762_7766dup | XP_011533507.1:p.Ser2590TyrfsTer? | |
| NM_000059.4:c.7762_7766dup MANE Select | NP_000050.3:p.Ser2590TyrfsTer? |