Linked Data
ClinVar Variation Id:
369933
ClinVar RCV Id:
RCV000408840
dbSNP Id:
rs1057516180
MyVariant Identifiers:
chr3:g.138664708_138664709delinsT (hg19)
chr3:g.138945866_138945867delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945866_138945867delinsT , CM000665.2:g.138945866_138945867delinsT | GRCh38 |
| NC_000003.11:g.138664708_138664709delinsT , CM000665.1:g.138664708_138664709delinsT | GRCh37 |
| NC_000003.10:g.140147398_140147399delinsT | NCBI36 |
| NG_012454.1:g.6274_6275delinsA | |
| NG_029796.1:g.3633_3634delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.856_857delinsA MANE Select | ENSP00000497217.1:p.Pro286IlefsTer? | |
| ENST00000330315.3:c.856_857delinsA | ENSP00000333188.3:p.Pro286IlefsTer? | |
| NM_023067.3:c.856_857delinsA | NP_075555.1:p.Pro286IlefsTer? | |
| NM_023067.4:c.856_857delinsA MANE Select | NP_075555.1:p.Pro286IlefsTer? |