Linked Data
ClinVar Variation Id:
21606
dbSNP Id:
rs199422173
ExAC:
1:197070597 TTC / T
gnomAD v2:
1-197070597-TTC-T
gnomAD v3:
1-197101467-TTC-T
gnomAD v4:
1-197101467-TTC-T
COSMIC:
COSM3666534
MyVariant Identifiers:
chr1:g.197070598_197070599del (hg19)
chr1:g.197101469_197101470del (hg38)
chr1:g.197101468_197101469del (hg38)
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197101469_197101470del , CM000663.2:g.197101469_197101470del | GRCh38 |
| NC_000001.10:g.197070599_197070600del , CM000663.1:g.197070599_197070600del | GRCh37 |
| NC_000001.9:g.195337222_195337223del | NCBI36 |
| NG_015867.1:g.50226_50227del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2108-5305_2108-5304del | ||
| ENST00000367409.9:c.7782_7783del MANE Select | ENSP00000356379.4:p.Lys2595SerfsTer6 | |
| ENST00000680265.1:c.7782_7783del | ENSP00000505384.1:p.Lys2595SerfsTer6 | |
| ENST00000680710.1:c.7782_7783del | ENSP00000506676.1:p.Lys2595SerfsTer6 | |
| ENST00000294732.11:c.4066-5305_4066-5304del | ENSP00000294732.7:n.4066-5305_4066-5304del | |
| ENST00000367408.5:c.1816-5305_1816-5304del | ENSP00000356378.1:n.1816-5305_1816-5304del | |
| ENST00000367409.8:c.7782_7783del | ENSP00000356379.4:p.Lys2595SerfsTer6 | |
| ENST00000612785.1:c.1740_1741del | ENSP00000479244.1:p.Lys581SerfsTer6 | |
| NM_001206846.1:c.4066-5305_4066-5304del | NP_001193775.1:n.4066-5305_4066-5304del | |
| NM_018136.4:c.7782_7783del | NP_060606.3:p.Lys2595SerfsTer6 | |
| NM_018136.5:c.7782_7783del MANE Select | NP_060606.3:p.Lys2595SerfsTer6 | |
| NM_001206846.2:c.4066-5305_4066-5304del | NP_001193775.1:n.4066-5305_4066-5304del |