Linked Data
ClinVar Variation Id:
342315
ClinVar RCV Id:
RCV000286323
dbSNP Id:
rs886057681
MyVariant Identifiers:
chr3:g.100945087_100945128delinsGCAC (hg19)
chr3:g.101226243_101226284delinsGCAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101226243_101226284delinsGCAC , CM000665.2:g.101226243_101226284delinsGCAC | GRCh38 |
| NC_000003.11:g.100945087_100945128delinsGCAC , CM000665.1:g.100945087_100945128delinsGCAC | GRCh37 |
| NC_000003.10:g.102427777_102427818delinsGCAC | NCBI36 |
| NG_028284.1:g.99292_99333delinsGTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.*685_*726delinsGTGC MANE Select | ENSP00000193391.6:n.*685_*726delinsGTGC | |
| ENST00000193391.7:c.*685_*726delinsGTGC | ENSP00000193391.6:n.*685_*726delinsGTGC | |
| NM_016247.3:c.*685_*726delinsGTGC | NP_057331.2:n.*685_*726delinsGTGC | |
| XM_011512872.1:c.*685_*726delinsGTGC | XP_011511174.1:n.*685_*726delinsGTGC | |
| NM_016247.4:c.*685_*726delinsGTGC MANE Select | NP_057331.2:n.*685_*726delinsGTGC |