Linked Data
ClinVar Variation Id:
52690
ClinVar RCV Id:
RCV000256756
dbSNP Id:
rs397508015
PubMed:
PMID:20858050
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379410_32379413del , CM000675.2:g.32379410_32379413del | GRCh38 |
| NC_000013.10:g.32953547_32953550del , CM000675.1:g.32953547_32953550del | GRCh37 |
| NC_000013.9:g.31851547_31851550del | NCBI36 |
| NG_012772.3:g.68931_68934del , LRG_293:g.68931_68934del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.8848_8851del | ENSP00000434898.2:p.Lys2950ProfsTer25 | |
| ENST00000528762.2:c.*215_*218del | ENSP00000433168.2:n.*215_*218del | |
| ENST00000530893.7:c.8479_8482del | ENSP00000499438.2:p.Lys2827ProfsTer25 | |
| ENST00000665585.2:c.*410_*413del | ENSP00000499570.2:n.*410_*413del | |
| ENST00000666593.2:c.8848_8851del | ENSP00000499256.2:p.Lys2950ProfsTer25 | |
| ENST00000700202.2:c.8848_8851del | ENSP00000514856.2:p.Lys2950ProfsTer25 | |
| ENST00000700202.1:c.1315_1318del | ENSP00000514856.1:p.Lys439ProfsTer25 | |
| ENST00000700203.1:n.975_978del | ||
| ENST00000380152.8:c.8848_8851del MANE Select | ENSP00000369497.3:p.Lys2950ProfsTer25 | |
| ENST00000544455.6:c.8848_8851del | ENSP00000439902.1:p.Lys2950ProfsTer25 | |
| ENST00000614259.2:c.8856_8859del | ENSP00000506251.1:n.8856_8859del | |
| ENST00000665585.1:c.1726_1729del | ||
| ENST00000680887.1:c.8848_8851del | ENSP00000505508.1:p.Lys2950ProfsTer25 | |
| ENST00000380152.7:c.8848_8851del | ENSP00000369497.3:p.Lys2950ProfsTer25 | |
| ENST00000528762.1:c.410_413del | ENSP00000433168.1:n.410_413del | |
| ENST00000544455.5:c.8848_8851del | ENSP00000439902.1:p.Lys2950ProfsTer25 | |
| NM_000059.3:c.8848_8851del , LRG_293t1:c.8848_8851del | NP_000050.2:p.Lys2950ProfsTer25 | |
| XM_011535203.1:c.8848_8851del | XP_011533505.1:p.Lys2950ProfsTer25 | |
| XM_011535204.1:c.8752_8755del | XP_011533506.1:p.Lys2918ProfsTer25 | |
| XM_011535205.1:c.8755-340_8755-337del | XP_011533507.1:n.8755-340_8755-337del | |
| NM_000059.4:c.8848_8851del MANE Select | NP_000050.3:p.Lys2950ProfsTer25 |