Linked Data
ClinVar Variation Id:
52252
ClinVar RCV Id:
RCV001852952
dbSNP Id:
rs397507892
PubMed:
PMID:22762150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32330939del , CM000675.2:g.32330939del | GRCh38 |
| NC_000013.10:g.32905076del , CM000675.1:g.32905076del | GRCh37 |
| NC_000013.9:g.31803076del | NCBI36 |
| NG_012772.3:g.20460del , LRG_293:g.20460del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.702del | ENSP00000434898.2:p.Asn235IlefsTer6 | |
| ENST00000528762.2:c.702del | ENSP00000433168.2:p.Asn235IlefsTer6 | |
| ENST00000530893.7:c.333del | ENSP00000499438.2:p.Asn112IlefsTer6 | |
| ENST00000665585.2:c.702del | ENSP00000499570.2:p.Asn235IlefsTer6 | |
| ENST00000666593.2:c.702del | ENSP00000499256.2:p.Asn235IlefsTer6 | |
| ENST00000700202.2:c.702del | ENSP00000514856.2:p.Asn235IlefsTer6 | |
| ENST00000700201.1:c.*481del | ENSP00000514855.1:n.*481del | |
| ENST00000380152.8:c.702del MANE Select | ENSP00000369497.3:p.Asn235IlefsTer6 | |
| ENST00000544455.6:c.702del | ENSP00000439902.1:p.Asn235IlefsTer6 | |
| ENST00000614259.2:c.702del | ENSP00000506251.1:p.Asn235IlefsTer6 | |
| ENST00000680887.1:c.702del | ENSP00000505508.1:p.Asn235IlefsTer6 | |
| ENST00000380152.7:c.702del | ENSP00000369497.3:p.Asn235IlefsTer6 | |
| ENST00000530893.6:n.900del | ||
| ENST00000544455.5:c.702del | ENSP00000439902.1:p.Asn235IlefsTer6 | |
| ENST00000614259.1:n.702del | ||
| NM_000059.3:c.702del , LRG_293t1:c.702del | NP_000050.2:p.Asn235IlefsTer6 | |
| XM_011535203.1:c.702del | XP_011533505.1:p.Asn235IlefsTer6 | |
| XM_011535204.1:c.702del | XP_011533506.1:p.Asn235IlefsTer6 | |
| XM_011535205.1:c.702del | XP_011533507.1:p.Asn235IlefsTer6 | |
| NM_000059.4:c.702del MANE Select | NP_000050.3:p.Asn235IlefsTer6 |