Linked Data
ClinVar Variation Id:
252999
ClinVar RCV Id:
RCV000417076
dbSNP Id:
rs1057519385
MyVariant Identifiers:
chr1:g.193091338_193091340delinsCT (hg19)
chr1:g.193122208_193122210delinsCT (hg38)
PubMed:
PMID:27658992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122208_193122210delinsCT , CM000663.2:g.193122208_193122210delinsCT | GRCh38 |
| NC_000001.10:g.193091338_193091340delinsCT , CM000663.1:g.193091338_193091340delinsCT | GRCh37 |
| NC_000001.9:g.191357961_191357963delinsCT | NCBI36 |
| NG_012691.1:g.5251_5253delinsCT , LRG_507:g.5251_5253delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367435.5:c.8_10delinsCT MANE Select | ENSP00000356405.4:p.Asp3AlafsTer18 | |
| ENST00000635846.1:c.8_10delinsCT | ENSP00000490035.1:p.Asp3AlafsTer18 | |
| ENST00000643006.1:c.8_10delinsCT | ENSP00000496633.1:p.Asp3AlafsTer18 | |
| ENST00000643784.1:c.8_10delinsCT | ENSP00000494944.1:p.Asp3AlafsTer18 | |
| ENST00000648071.1:c.8_10delinsCT | ENSP00000497513.1:p.Asp3AlafsTer18 | |
| ENST00000649606.1:n.21_23delinsCT | ||
| ENST00000649895.1:n.226_228delinsCT | ||
| ENST00000650197.1:c.8_10delinsCT | ENSP00000496929.1:p.Asp3AlafsTer18 | |
| ENST00000367435.3:c.8_10delinsCT | ENSP00000356405.3:p.Asp3AlafsTer18 | |
| NM_024529.4:c.8_10delinsCT , LRG_507t1:c.8_10delinsCT | NP_078805.3:p.Asp3AlafsTer18 | |
| XM_006711537.2:c.8_10delinsCT | XP_006711600.1:p.Asp3AlafsTer18 | |
| XM_006711537.4:c.8_10delinsCT | XP_006711600.1:p.Asp3AlafsTer18 | |
| XR_001738350.1:n.1447_1449delinsAG | ||
| NM_024529.5:c.8_10delinsCT MANE Select | NP_078805.3:p.Asp3AlafsTer18 |