Linked Data
ClinVar Variation Id:
180626
ClinVar RCV Id:
RCV000192047
dbSNP Id:
rs797044537
PubMed:
PMID:20301751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235775006_235775007del , CM000663.2:g.235775006_235775007del | GRCh38 |
| NC_000001.10:g.235938306_235938307del , CM000663.1:g.235938306_235938307del | GRCh37 |
| NC_000001.9:g.234004929_234004930del | NCBI36 |
| NG_007397.1:g.113635_113636del , LRG_143:g.113635_113636del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461526.2:c.216_217del | ENSP00000513165.1:p.Arg73SerfsTer3 | |
| ENST00000697178.1:c.*965_*966del | ENSP00000513163.1:n.*965_*966del | |
| ENST00000697180.1:c.137_138del | ||
| ENST00000389793.7:c.5541_5542del MANE Select | ENSP00000374443.2:p.Arg1848SerfsTer3 | |
| ENST00000389793.6:c.5541_5542del | ENSP00000374443.2:p.Arg1848SerfsTer3 | |
| ENST00000389794.7:c.*965_*966del | ENSP00000374444.4:n.*965_*966del | |
| ENST00000489585.5:n.6092_6093del | ||
| NM_000081.3:c.5541_5542del , LRG_143t1:c.5541_5542del | NP_000072.2:p.Arg1848SerfsTer3 | |
| NM_001301365.1:c.5541_5542del , LRG_143t2:c.5541_5542del | NP_001288294.1:p.Arg1848SerfsTer3 | |
| XM_011544031.1:c.5541_5542del | XP_011542333.1:p.Arg1848SerfsTer3 | |
| XM_011544032.1:c.5541_5542del | XP_011542334.1:p.Arg1848SerfsTer3 | |
| XM_011544033.1:c.5541_5542del | XP_011542335.1:p.Arg1848SerfsTer3 | |
| XM_011544034.1:c.5541_5542del | XP_011542336.1:p.Arg1848SerfsTer3 | |
| XM_011544035.1:c.5541_5542del | XP_011542337.1:p.Arg1848SerfsTer3 | |
| XM_011544036.1:c.3204_3205del | XP_011542338.1:p.Arg1069SerfsTer3 | |
| XM_011544037.1:c.5541_5542del | XP_011542339.1:p.Arg1848SerfsTer3 | |
| XM_011544038.1:c.5541_5542del | XP_011542340.1:p.Arg1848SerfsTer3 | |
| XM_011544039.1:c.5541_5542del | XP_011542341.1:p.Arg1848SerfsTer3 | |
| XM_011544040.1:c.5541_5542del | XP_011542342.1:p.Arg1848SerfsTer3 | |
| XM_011544033.2:c.5541_5542del | XP_011542335.1:p.Arg1848SerfsTer3 | |
| XM_011544035.2:c.5541_5542del | XP_011542337.1:p.Arg1848SerfsTer3 | |
| XM_011544036.2:c.3204_3205del | XP_011542338.1:p.Arg1069SerfsTer3 | |
| XM_011544037.2:c.5541_5542del | XP_011542339.1:p.Arg1848SerfsTer3 | |
| XM_011544039.2:c.5541_5542del | XP_011542341.1:p.Arg1848SerfsTer3 | |
| XM_017000150.1:c.5541_5542del | XP_016855639.1:p.Arg1848SerfsTer3 | |
| XM_017000151.1:c.5541_5542del | XP_016855640.1:p.Arg1848SerfsTer3 | |
| XR_001736946.2:n.5723_5724del | ||
| XR_001736947.1:n.5723_5724del | ||
| XR_001736948.1:n.5723_5724del | ||
| XR_002959252.1:n.5723_5724del | ||
| NM_000081.4:c.5541_5542del MANE Select | NP_000072.2:p.Arg1848SerfsTer3 |