Linked Data
ClinVar Variation Id:
550812
ClinVar RCV Id:
RCV000665662
dbSNP Id:
rs1555558920
MyVariant Identifiers:
chr17:g.42900928_42900943dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42900928_42900943dup , CM000679.2:g.42900928_42900943dup | GRCh38 |
| NC_000017.10:g.41052945_41052960dup , CM000679.1:g.41052945_41052960dup | GRCh37 |
| NC_000017.9:g.38306471_38306486dup | NCBI36 |
| NG_011808.1:g.5131_5146dup , LRG_147:g.5131_5146dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253801.7:c.52_67dup MANE Select | ENSP00000253801.1:p.Tyr23LeufsTer? | |
| ENST00000253801.6:c.52_67dup | ENSP00000253801.1:p.Tyr23LeufsTer? | |
| ENST00000585489.1:c.52_67dup | ENSP00000466202.1:p.Tyr23LeufsTer? | |
| ENST00000588481.1:n.117_132dup | ||
| ENST00000592383.5:c.52_67dup | ENSP00000465958.1:p.Tyr23LeufsTer? | |
| NM_000151.3:c.52_67dup | NP_000142.2:p.Tyr23LeufsTer? | |
| NM_001270397.1:c.52_67dup | NP_001257326.1:p.Tyr23LeufsTer? | |
| NM_000151.4:c.52_67dup MANE Select | NP_000142.2:p.Tyr23LeufsTer? | |
| NM_001270397.2:c.52_67dup | NP_001257326.1:p.Tyr23LeufsTer? |