Linked Data
ClinVar Variation Id:
21585
ClinVar RCV Id:
RCV000020775
dbSNP Id:
rs199422133
gnomAD v4:
1-197143957-CT-C
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197143962del , CM000663.2:g.197143962del | GRCh38 |
| NC_000001.10:g.197113092del , CM000663.1:g.197113092del | GRCh37 |
| NC_000001.9:g.195379715del | NCBI36 |
| NG_015867.1:g.7737del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367409.9:c.440del MANE Select | ENSP00000356379.4:p.Lys147ArgfsTer? | |
| ENST00000679766.1:n.657del | ||
| ENST00000680265.1:c.440del | ENSP00000505384.1:p.Lys147ArgfsTer? | |
| ENST00000680710.1:c.440del | ENSP00000506676.1:p.Lys147ArgfsTer? | |
| ENST00000681879.1:c.440del | ENSP00000505363.1:p.Lys147ArgfsTer? | |
| ENST00000294732.11:c.440del | ENSP00000294732.7:p.Lys147ArgfsTer? | |
| ENST00000367409.8:c.440del | ENSP00000356379.4:p.Lys147ArgfsTer? | |
| ENST00000612785.1:c.440del | ENSP00000479244.1:p.Lys147ArgfsTer? | |
| NM_001206846.1:c.440del | NP_001193775.1:p.Lys147ArgfsTer? | |
| NM_018136.4:c.440del | NP_060606.3:p.Lys147ArgfsTer? | |
| NM_018136.5:c.440del MANE Select | NP_060606.3:p.Lys147ArgfsTer? | |
| NM_001206846.2:c.440del | NP_001193775.1:p.Lys147ArgfsTer? |