Linked Data
ClinVar Variation Id:
96189
ClinVar RCV Id:
RCV000351208
dbSNP Id:
rs398124419
MyVariant Identifiers:
chr17:g.17696674del (hg19)
chr17:g.17696674delG (hg19)
chr17:g.17793360del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17793360del , CM000679.2:g.17793360del | GRCh38 |
| NC_000017.10:g.17696674del , CM000679.1:g.17696674del | GRCh37 |
| NC_000017.9:g.17637399del | NCBI36 |
| NG_007101.2:g.116888del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000353383.6:c.412del MANE Select | ENSP00000323074.4:p.Val138TrpfsTer8 | |
| ENST00000640861.1:c.412del | ENSP00000491773.1:p.Val138TrpfsTer8 | |
| ENST00000353383.5:c.412del | ENSP00000323074.4:p.Val138TrpfsTer8 | |
| ENST00000395774.1:c.412del | ENSP00000379120.1:p.Val138TrpfsTer8 | |
| NM_030665.3:c.412del | NP_109590.3:p.Val138TrpfsTer8 | |
| XM_017024025.1:c.412del | XP_016879514.1:p.Val138TrpfsTer8 | |
| XM_017024026.1:c.412del | XP_016879515.1:p.Val138TrpfsTer8 | |
| XM_017024027.1:c.412del | XP_016879516.1:p.Val138TrpfsTer8 | |
| XM_017024028.2:c.412del | XP_016879517.1:p.Val138TrpfsTer8 | |
| NM_030665.4:c.412del MANE Select | NP_109590.3:p.Val138TrpfsTer8 |