Linked Data
ClinVar Variation Id:
21637
ClinVar RCV Id:
RCV000020827
dbSNP Id:
rs199422197
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090274del , CM000663.2:g.197090274del | GRCh38 |
| NC_000001.10:g.197059404del , CM000663.1:g.197059404del | GRCh37 |
| NC_000001.9:g.195326027del | NCBI36 |
| NG_015867.1:g.61424del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.3041del | ||
| ENST00000367409.9:c.9754del MANE Select | ENSP00000356379.4:p.Arg3252GlufsTer10 | |
| ENST00000680265.1:c.9976del | ENSP00000505384.1:p.Arg3326GlufsTer10 | |
| ENST00000680710.1:c.9730del | ENSP00000506676.1:p.Arg3244GlufsTer10 | |
| ENST00000294732.11:c.4999del | ENSP00000294732.7:p.Arg1667GlufsTer10 | |
| ENST00000367408.5:c.2749del | ENSP00000356378.1:p.Arg917GlufsTer10 | |
| ENST00000367409.8:c.9754del | ENSP00000356379.4:p.Arg3252GlufsTer10 | |
| ENST00000612785.1:c.3712del | ENSP00000479244.1:p.Arg1238GlufsTer10 | |
| NM_001206846.1:c.4999del | NP_001193775.1:p.Arg1667GlufsTer10 | |
| NM_018136.4:c.9754del | NP_060606.3:p.Arg3252GlufsTer10 | |
| NM_018136.5:c.9754del MANE Select | NP_060606.3:p.Arg3252GlufsTer10 | |
| NM_001206846.2:c.4999del | NP_001193775.1:p.Arg1667GlufsTer10 |