Linked Data
ClinVar Variation Id:
21596
ClinVar RCV Id:
RCV000020786
dbSNP Id:
rs199422170
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197102598_197102601del , CM000663.2:g.197102598_197102601del | GRCh38 |
| NC_000001.10:g.197071728_197071731del , CM000663.1:g.197071728_197071731del | GRCh37 |
| NC_000001.9:g.195338351_195338354del | NCBI36 |
| NG_015867.1:g.49095_49098del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2108-6436_2108-6433del | ||
| ENST00000367409.9:c.6651_6654del MANE Select | ENSP00000356379.4:p.Thr2218TyrfsTer8 | |
| ENST00000680265.1:c.6651_6654del | ENSP00000505384.1:p.Thr2218TyrfsTer8 | |
| ENST00000680710.1:c.6651_6654del | ENSP00000506676.1:p.Thr2218TyrfsTer8 | |
| ENST00000294732.11:c.4066-6436_4066-6433del | ENSP00000294732.7:n.4066-6436_4066-6433de... | |
| ENST00000367408.5:c.1816-6436_1816-6433del | ENSP00000356378.1:n.1816-6436_1816-6433de... | |
| ENST00000367409.8:c.6651_6654del | ENSP00000356379.4:p.Thr2218TyrfsTer8 | |
| ENST00000612785.1:c.609_612del | ENSP00000479244.1:p.Thr204TyrfsTer8 | |
| NM_001206846.1:c.4066-6436_4066-6433del | NP_001193775.1:n.4066-6436_4066-6433del | |
| NM_018136.4:c.6651_6654del | NP_060606.3:p.Thr2218TyrfsTer8 | |
| NM_018136.5:c.6651_6654del MANE Select | NP_060606.3:p.Thr2218TyrfsTer8 | |
| NM_001206846.2:c.4066-6436_4066-6433del | NP_001193775.1:n.4066-6436_4066-6433del |