Linked Data
ClinVar Variation Id:
224806
ClinVar RCV Id:
RCV000210395
dbSNP Id:
rs869312858
MyVariant Identifiers:
chr1:g.27877225dupA (hg19)
chr1:g.27877224_27877225insA (hg19)
chr1:g.27550714dupA (hg38)
chr1:g.27550713_27550714insA (hg38)
PubMed:
PMID:26350515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27550714dup , CM000663.2:g.27550714dup | GRCh38 |
| NC_000001.10:g.27877225dup , CM000663.1:g.27877225dup | GRCh37 |
| NC_000001.9:g.27749812dup | NCBI36 |
| NG_034158.1:g.57781dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247087.10:c.1402dup | ENSP00000247087.4:p.Cys468LeufsTer? | |
| ENST00000642245.1:c.1402dup | ENSP00000495072.1:p.Cys468LeufsTer? | |
| ENST00000642416.1:c.1402dup | ENSP00000494394.1:p.Cys468LeufsTer? | |
| ENST00000644989.1:c.1402dup | ENSP00000495665.1:p.Cys468LeufsTer? | |
| ENST00000673934.1:c.1402dup MANE Select | ENSP00000501218.1:p.Cys468LeufsTer? | |
| ENST00000247087.9:c.1402dup | ENSP00000247087.4:p.Cys468LeufsTer? | |
| ENST00000374011.6:c.1402dup | ENSP00000363123.2:p.Cys468LeufsTer? | |
| NM_001029882.3:c.1402dup | NP_001025053.1:p.Cys468LeufsTer? | |
| XM_005245848.2:c.1402dup | XP_005245905.1:p.Cys468LeufsTer? | |
| XM_005245849.2:c.1402dup | XP_005245906.1:p.Cys468LeufsTer? | |
| XM_005245850.2:c.1402dup | XP_005245907.1:p.Cys468LeufsTer? | |
| XM_005245851.2:c.1402dup | XP_005245908.1:p.Cys468LeufsTer? | |
| XM_005245852.2:c.1402dup | XP_005245909.1:p.Cys468LeufsTer? | |
| XM_011541255.1:c.1402dup | XP_011539557.1:p.Cys468LeufsTer? | |
| XM_011541256.1:c.1402dup | XP_011539558.1:p.Cys468LeufsTer? | |
| XM_011541257.1:c.1402dup | XP_011539559.1:p.Cys468LeufsTer? | |
| XR_946609.1:n.2359dup | ||
| XM_005245848.3:c.1402dup | XP_005245905.1:p.Cys468LeufsTer? | |
| XM_005245849.3:c.1402dup | XP_005245906.1:p.Cys468LeufsTer? | |
| XM_005245850.3:c.1402dup | XP_005245907.1:p.Cys468LeufsTer? | |
| XM_005245851.3:c.1402dup | XP_005245908.1:p.Cys468LeufsTer? | |
| XM_005245852.3:c.1402dup | XP_005245909.1:p.Cys468LeufsTer? | |
| XM_011541256.2:c.1402dup | XP_011539558.1:p.Cys468LeufsTer? | |
| XM_011541257.2:c.1402dup | XP_011539559.1:p.Cys468LeufsTer? | |
| XM_024446461.1:c.1402dup | XP_024302229.1:p.Cys468LeufsTer? | |
| XR_946609.2:n.2469dup | ||
| NM_001371928.1:c.1402dup MANE Select | NP_001358857.1:p.Cys468LeufsTer? |