Linked Data
ClinVar Variation Id:
2507
dbSNP Id:
rs1274036689
COSMIC:
COSM1385633
MyVariant Identifiers:
chr17:g.70119781_70119782insG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123645dup , CM000679.2:g.72123645dup | GRCh38 |
| NC_000017.10:g.70119786dup , CM000679.1:g.70119786dup | GRCh37 |
| NC_000017.9:g.67631381dup | NCBI36 |
| NG_012490.1:g.7626dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.788dup MANE Select | ENSP00000245479.2:p.Arg264GlnfsTer? | |
| ENST00000245479.2:c.788dup | ENSP00000245479.2:p.Arg264GlnfsTer? | |
| NM_000346.3:c.788dup | NP_000337.1:p.Arg264GlnfsTer? | |
| NM_000346.4:c.788dup MANE Select | NP_000337.1:p.Arg264GlnfsTer? |