Linked Data
ClinVar Variation Id:
552278
ClinVar RCV Id:
RCV000667506
dbSNP Id:
rs1555549769
MyVariant Identifiers:
chr17:g.35576172_35576175del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35576174_35576177del , CM000679.2:g.35576174_35576177del | GRCh38 |
| NC_000017.10:g.33903193_33903196del , CM000679.1:g.33903193_33903196del | GRCh37 |
| NC_000017.9:g.30927306_30927309del | NCBI36 |
| NG_008447.1:g.7463_7466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.687_690del MANE Select | ENSP00000225873.3:p.Ser229ArgfsTer3 | |
| ENST00000586663.2:c.687_690del | ENSP00000466894.2:p.Ser229ArgfsTer3 | |
| ENST00000225873.8:c.687_690del | ENSP00000225873.3:p.Ser229ArgfsTer3 | |
| ENST00000586663.1:c.687_690del | ENSP00000466894.1:p.Ser229ArgfsTer3 | |
| ENST00000613219.4:c.687_690del | ENSP00000482609.1:p.Ser229ArgfsTer3 | |
| NM_000286.2:c.687_690del | NP_000277.1:p.Ser229ArgfsTer3 | |
| NM_000286.3:c.687_690del MANE Select | NP_000277.1:p.Ser229ArgfsTer3 |