Linked Data
ClinVar Variation Id:
213550
ClinVar RCV Id:
RCV000198520
dbSNP Id:
rs863223664
MyVariant Identifiers:
chr20:g.10639222_10639223delinsA (hg19)
chr20:g.10658574_10658575delinsA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658574_10658575delinsA , CM000682.2:g.10658574_10658575delinsA | GRCh38 |
| NC_000020.10:g.10639222_10639223delinsA , CM000682.1:g.10639222_10639223delinsA | GRCh37 |
| NC_000020.9:g.10587222_10587223delinsA | NCBI36 |
| NG_007496.1:g.20472_20473delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.587_588delinsT MANE Select | ENSP00000254958.4:p.Cys196LeufsTer? | |
| ENST00000254958.9:c.587_588delinsT | ENSP00000254958.4:p.Cys196LeufsTer? | |
| ENST00000423891.6:n.453_454delinsT | ||
| NM_000214.2:c.587_588delinsT | NP_000205.1:p.Cys196LeufsTer? | |
| NM_000214.3:c.587_588delinsT MANE Select | NP_000205.1:p.Cys196LeufsTer? |