Linked Data
ClinVar Variation Id:
66517
ClinVar RCV Id:
RCV000056921
dbSNP Id:
rs267607432
MyVariant Identifiers:
chr12:g.53205585_53205586insTGT (hg19)
chr12:g.52811801_52811802insTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52811801_52811802insTGT , CM000674.2:g.52811801_52811802insTGT | GRCh38 |
| NC_000012.11:g.53205585_53205586insTGT , CM000674.1:g.53205585_53205586insTGT | GRCh37 |
| NC_000012.10:g.51491852_51491853insTGT | NCBI36 |
| NG_007380.1:g.7750_7751insACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551956.2:c.638_639insACA MANE Select | ENSP00000448220.1:p.Leu213_Lys214insGln | |
| ENST00000548097.5:c.*150_*151insACA | ENSP00000449755.1:n.*150_*151insACA | |
| ENST00000551436.1:n.196_197insACA | ||
| ENST00000551956.1:c.638_639insACA | ENSP00000448220.1:p.Leu213_Lys214insGln | |
| ENST00000552668.1:c.*83-986_*83-985insACA | ENSP00000447320.1:n.*83-986_*83-985insACA... | |
| NM_002272.3:c.638_639insACA | NP_002263.3:p.Leu213_Lys214insGln | |
| NM_002272.4:c.638_639insACA MANE Select | NP_002263.3:p.Leu213_Lys214insGln |