Linked Data
ClinVar Variation Id:
234435
ClinVar RCV Id:
RCV000217980
dbSNP Id:
rs750664956
ExAC:
1:197072196 TTC / T
gnomAD v2:
1-197072196-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197103068_197103069del , CM000663.2:g.197103068_197103069del | GRCh38 |
| NC_000001.10:g.197072198_197072199del , CM000663.1:g.197072198_197072199del | GRCh37 |
| NC_000001.9:g.195338821_195338822del | NCBI36 |
| NG_015867.1:g.48627_48628del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2108-6904_2108-6903del | ||
| ENST00000367409.9:c.6183_6184del MANE Select | ENSP00000356379.4:p.Lys2062IlefsTer5 | |
| ENST00000680265.1:c.6183_6184del | ENSP00000505384.1:p.Lys2062IlefsTer5 | |
| ENST00000680710.1:c.6183_6184del | ENSP00000506676.1:p.Lys2062IlefsTer5 | |
| ENST00000294732.11:c.4066-6904_4066-6903del | ENSP00000294732.7:n.4066-6904_4066-6903de... | |
| ENST00000367408.5:c.1816-6904_1816-6903del | ENSP00000356378.1:n.1816-6904_1816-6903de... | |
| ENST00000367409.8:c.6183_6184del | ENSP00000356379.4:p.Lys2062IlefsTer5 | |
| ENST00000612785.1:c.562-421_562-420del | ENSP00000479244.1:n.562-421_562-420del | |
| NM_001206846.1:c.4066-6904_4066-6903del | NP_001193775.1:n.4066-6904_4066-6903del | |
| NM_018136.4:c.6183_6184del | NP_060606.3:p.Lys2062IlefsTer5 | |
| NM_018136.5:c.6183_6184del MANE Select | NP_060606.3:p.Lys2062IlefsTer5 | |
| NM_001206846.2:c.4066-6904_4066-6903del | NP_001193775.1:n.4066-6904_4066-6903del |