Linked Data
ClinVar Variation Id:
21612
ClinVar RCV Id:
RCV000020802
dbSNP Id:
rs199422176
ExAC:
1:197070248 CTT / C
gnomAD v2:
1-197070248-CTT-C
MyVariant Identifiers:
chr1:g.197070250_197070251del (hg19)
chr1:g.197070249_197070250del (hg19)
chr1:g.197101120_197101121del (hg38)
chr1:g.197101119_197101120del (hg38)
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197101120_197101121del , CM000663.2:g.197101120_197101121del | GRCh38 |
| NC_000001.10:g.197070250_197070251del , CM000663.1:g.197070250_197070251del | GRCh37 |
| NC_000001.9:g.195336873_195336874del | NCBI36 |
| NG_015867.1:g.50575_50576del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2108-4956_2108-4955del | ||
| ENST00000367409.9:c.8131_8132del MANE Select | ENSP00000356379.4:p.Lys2711GlufsTer12 | |
| ENST00000680265.1:c.8131_8132del | ENSP00000505384.1:p.Lys2711GlufsTer12 | |
| ENST00000680710.1:c.8131_8132del | ENSP00000506676.1:p.Lys2711GlufsTer12 | |
| ENST00000294732.11:c.4066-4956_4066-4955del | ENSP00000294732.7:n.4066-4956_4066-4955de... | |
| ENST00000367408.5:c.1816-4956_1816-4955del | ENSP00000356378.1:n.1816-4956_1816-4955de... | |
| ENST00000367409.8:c.8131_8132del | ENSP00000356379.4:p.Lys2711GlufsTer12 | |
| ENST00000612785.1:c.2089_2090del | ENSP00000479244.1:p.Lys697GlufsTer12 | |
| NM_001206846.1:c.4066-4956_4066-4955del | NP_001193775.1:n.4066-4956_4066-4955del | |
| NM_018136.4:c.8131_8132del | NP_060606.3:p.Lys2711GlufsTer12 | |
| NM_018136.5:c.8131_8132del MANE Select | NP_060606.3:p.Lys2711GlufsTer12 | |
| NM_001206846.2:c.4066-4956_4066-4955del | NP_001193775.1:n.4066-4956_4066-4955del |