Linked Data
ClinVar Variation Id:
353035
ClinVar RCV Id:
RCV000319767
dbSNP Id:
rs386695575
MyVariant Identifiers:
chr5:g.178537916_178537917delinsTT (hg19)
chr5:g.179110915_179110916delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179110915_179110916delinsTT , CM000667.2:g.179110915_179110916delinsTT | GRCh38 |
| NC_000005.9:g.178537916_178537917delinsTT , CM000667.1:g.178537916_178537917delinsTT | GRCh37 |
| NC_000005.8:g.178470522_178470523delinsTT | NCBI36 |
| NG_023212.2:g.239413_239414delinsAA | |
| NG_023212.3:g.239413_239414delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251582.12:c.*2951_*2952delinsAA MANE Select | ENSP00000251582.7:n.*2951_*2952delinsAA | |
| ENST00000251582.11:c.*2951_*2952delinsAA | ENSP00000251582.7:n.*2951_*2952delinsAA | |
| NM_014244.4:c.*2951_*2952delinsAA | NP_055059.2:n.*2951_*2952delinsAA | |
| NM_014244.5:c.*2951_*2952delinsAA MANE Select | NP_055059.2:n.*2951_*2952delinsAA |