Linked Data
ClinVar Variation Id:
52173
ClinVar RCV Id:
RCV000257710
dbSNP Id:
rs397507880
PubMed:
PMID:22762150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32329484_32329487del , CM000675.2:g.32329484_32329487del | GRCh38 |
| NC_000013.10:g.32903621_32903624del , CM000675.1:g.32903621_32903624del | GRCh37 |
| NC_000013.9:g.31801621_31801624del | NCBI36 |
| NG_012772.3:g.19005_19008del , LRG_293:g.19005_19008del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.673_676del | ENSP00000434898.2:p.Thr225LeufsTer4 | |
| ENST00000528762.2:c.673_676del | ENSP00000433168.2:p.Thr225LeufsTer4 | |
| ENST00000530893.7:c.304_307del | ENSP00000499438.2:p.Thr102LeufsTer4 | |
| ENST00000665585.2:c.673_676del | ENSP00000499570.2:p.Thr225LeufsTer4 | |
| ENST00000666593.2:c.673_676del | ENSP00000499256.2:p.Thr225LeufsTer4 | |
| ENST00000700202.2:c.673_676del | ENSP00000514856.2:p.Thr225LeufsTer4 | |
| ENST00000700201.1:c.*452_*455del | ENSP00000514855.1:n.*452_*455del | |
| ENST00000380152.8:c.673_676del MANE Select | ENSP00000369497.3:p.Thr225LeufsTer4 | |
| ENST00000544455.6:c.673_676del | ENSP00000439902.1:p.Thr225LeufsTer4 | |
| ENST00000614259.2:c.673_676del | ENSP00000506251.1:p.Thr225LeufsTer4 | |
| ENST00000680887.1:c.673_676del | ENSP00000505508.1:p.Thr225LeufsTer4 | |
| ENST00000380152.7:c.673_676del | ENSP00000369497.3:p.Thr225LeufsTer4 | |
| ENST00000530893.6:n.871_874del | ||
| ENST00000544455.5:c.673_676del | ENSP00000439902.1:p.Thr225LeufsTer4 | |
| ENST00000614259.1:n.673_676del | ||
| NM_000059.3:c.673_676del , LRG_293t1:c.673_676del | NP_000050.2:p.Thr225LeufsTer4 | |
| XM_011535203.1:c.673_676del | XP_011533505.1:p.Thr225LeufsTer4 | |
| XM_011535204.1:c.673_676del | XP_011533506.1:p.Thr225LeufsTer4 | |
| XM_011535205.1:c.673_676del | XP_011533507.1:p.Thr225LeufsTer4 | |
| NM_000059.4:c.673_676del MANE Select | NP_000050.3:p.Thr225LeufsTer4 |