Linked Data
ClinVar Variation Id:
557323
ClinVar RCV Id:
RCV000673449
dbSNP Id:
rs1553316611
MyVariant Identifiers:
chr1:g.179575699dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179575703dup , CM000663.2:g.179575703dup | GRCh38 |
| NC_000001.10:g.179544838dup , CM000663.1:g.179544838dup | GRCh37 |
| NC_000001.9:g.177811461dup | NCBI36 |
| NG_007535.1:g.5251dup , LRG_887:g.5251dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.166dup MANE Select | ENSP00000356587.4:p.Glu56GlyfsTer14 | |
| ENST00000367615.8:c.166dup | ENSP00000356587.4:p.Glu56GlyfsTer14 | |
| ENST00000367616.4:c.166dup | ENSP00000356588.4:p.Glu56GlyfsTer14 | |
| NM_001297575.1:c.166dup | NP_001284504.1:p.Glu56GlyfsTer14 | |
| NM_014625.3:c.166dup , LRG_887t1:c.166dup | NP_055440.1:p.Glu56GlyfsTer14 | |
| XM_005245483.2:c.166dup | XP_005245540.1:p.Glu56GlyfsTer14 | |
| XM_006711529.2:c.166dup | XP_006711592.1:p.Glu56GlyfsTer14 | |
| XM_005245483.3:c.166dup | XP_005245540.1:p.Glu56GlyfsTer14 | |
| XM_017002298.1:c.166dup | XP_016857787.1:p.Glu56GlyfsTer14 | |
| XM_017002299.1:c.166dup | XP_016857788.1:p.Glu56GlyfsTer14 | |
| NM_001297575.2:c.166dup | NP_001284504.1:p.Glu56GlyfsTer14 | |
| NM_014625.4:c.166dup MANE Select | NP_055440.1:p.Glu56GlyfsTer14 |