Linked Data
ClinVar Variation Id:
432012
dbSNP Id:
rs769540174
ExAC:
10:73767316 C / CG
gnomAD v2:
10-73767316-C-CG
gnomAD v3:
10-72007558-C-CG
gnomAD v4:
10-72007558-C-CG
COSMIC:
COSM2161362
MyVariant Identifiers:
chr10:g.73767322dup (hg19)
chr10:g.73767317_73767318insG (hg19)
chr10:g.73767316_73767317insG (hg19)
chr10:g.72007564dup (hg38)
chr10:g.72007558_72007559insG (hg38)
PubMed:
PMID:27753269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007564dup , CM000672.2:g.72007564dup | GRCh38 |
| NC_000010.10:g.73767322dup , CM000672.1:g.73767322dup | GRCh37 |
| NC_000010.9:g.73437328dup | NCBI36 |
| NG_012635.1:g.48203dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.533dup MANE Select | ENSP00000362207.4:p.Ala179ArgfsTer? | |
| ENST00000373115.4:c.533dup | ENSP00000362207.4:p.Ala179ArgfsTer? | |
| NM_004273.4:c.533dup | NP_004264.2:p.Ala179ArgfsTer? | |
| XM_006718075.2:c.533dup | XP_006718138.1:p.Ala179ArgfsTer? | |
| XM_011540369.1:c.533dup | XP_011538671.1:p.Ala179ArgfsTer? | |
| XM_006718075.4:c.533dup | XP_006718138.1:p.Ala179ArgfsTer? | |
| XM_011540369.2:c.533dup | XP_011538671.1:p.Ala179ArgfsTer? | |
| NM_004273.5:c.533dup MANE Select | NP_004264.2:p.Ala179ArgfsTer? |