Linked Data
ClinVar Variation Id:
307069
ClinVar RCV Id:
RCV000408027
dbSNP Id:
rs886048925
MyVariant Identifiers:
chr12:g.109994455_109994467delinsTCT (hg19)
chr12:g.109556650_109556662delinsTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109556650_109556662delinsTCT , CM000674.2:g.109556650_109556662delinsTCT | GRCh38 |
| NC_000012.11:g.109994455_109994467delinsTCT , CM000674.1:g.109994455_109994467delinsTCT | GRCh37 |
| NC_000012.10:g.108478838_108478850delinsTCT | NCBI36 |
| NG_007096.1:g.21836_21848delinsAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.*366_*378delinsAGA MANE Select | ENSP00000445920.1:n.*366_*378delinsAGA | |
| ENST00000545712.6:c.*366_*378delinsAGA | ENSP00000445920.1:n.*366_*378delinsAGA | |
| NM_052845.3:c.*366_*378delinsAGA | NP_443077.1:n.*366_*378delinsAGA | |
| NR_038118.1:n.1279_1291delinsAGA | ||
| NM_052845.4:c.*366_*378delinsAGA MANE Select | NP_443077.1:n.*366_*378delinsAGA | |
| NR_038118.2:n.1230_1242delinsAGA |