Linked Data
ClinVar Variation Id:
15657
ClinVar RCV Id:
RCV000016943
dbSNP Id:
rs587776826
MyVariant Identifiers:
chr16:g.223146_223152delinsTACTTC (hg19)
chr16:g.173147_173153delinsTACTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173147_173153delinsTACTTC , CM000678.2:g.173147_173153delinsTACTTC | GRCh38 |
| NC_000016.9:g.223146_223152delinsTACTTC , CM000678.1:g.223146_223152delinsTACTTC | GRCh37 |
| NC_000016.8:g.163146_163152delinsTACTTC | NCBI36 |
| NG_000006.1:g.34010_34016delinsTACTTC | |
| NG_059186.1:g.1497_1503delinsTACTTC | |
| NG_059271.1:g.5301_5307delinsTACTTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.118_124delinsTACTTC MANE Select | ENSP00000251595.6:p.Thr40TyrfsTer10 | |
| ENST00000251595.10:c.118_124delinsTACTTC | ENSP00000251595.6:p.Thr40TyrfsTer10 | |
| ENST00000397806.1:c.22_28delinsTACTTC | ENSP00000380908.1:p.Thr8TyrfsTer10 | |
| ENST00000482565.1:n.254_260delinsTACTTC | ||
| ENST00000484216.1:n.87_93delinsTACTTC | ||
| NM_000517.4:c.118_124delinsTACTTC | NP_000508.1:p.Thr40TyrfsTer10 | |
| NM_000517.6:c.118_124delinsTACTTC MANE Select | NP_000508.1:p.Thr40TyrfsTer10 |