Linked Data
ClinVar Variation Id:
94093
dbSNP Id:
rs398123690
MyVariant Identifiers:
chr1:g.17371344_17371345dup (hg19)
chr1:g.17371344_17371345dupGG (hg19)
chr1:g.17371343_17371344insGG (hg19)
chr1:g.17044849_17044850dupGG (hg38)
chr1:g.17044848_17044849insGG (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044851_17044852dup , CM000663.2:g.17044851_17044852dup | GRCh38 |
| NC_000001.10:g.17371346_17371347dup , CM000663.1:g.17371346_17371347dup | GRCh37 |
| NC_000001.9:g.17243933_17243934dup | NCBI36 |
| NG_012340.1:g.14321_14322dup , LRG_316:g.14321_14322dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-61_-60dup | ENSP00000481376.2:n.-61_-60dup | |
| ENST00000491274.6:c.69_70dup | ENSP00000480482.2:p.Arg24ProfsTer? | |
| ENST00000375499.8:c.111_112dup MANE Select | ENSP00000364649.3:p.Arg38ProfsTer? | |
| ENST00000375499.7:c.111_112dup | ENSP00000364649.3:p.Arg38ProfsTer? | |
| ENST00000463045.2:c.-61_-60dup | ENSP00000481376.1:n.-61_-60dup | |
| ENST00000466613.2:n.123_124dup | ||
| ENST00000475506.1:n.28_29dup | ||
| ENST00000485515.5:n.99_100dup | ||
| ENST00000491274.5:c.69_70dup | ENSP00000480482.1:p.Arg24ProfsTer? | |
| NM_003000.2:c.111_112dup , LRG_316t1:c.111_112dup | NP_002991.2:p.Arg38ProfsTer? | |
| NM_003000.3:c.111_112dup MANE Select | NP_002991.2:p.Arg38ProfsTer? |