Linked Data
ClinVar Variation Id:
557351
ClinVar RCV Id:
RCV000673483
dbSNP Id:
rs1553774884
MyVariant Identifiers:
chr3:g.136262009_136262010dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262009_136262010dup , CM000665.2:g.136262009_136262010dup | GRCh38 |
| NC_000003.11:g.135980851_135980852dup , CM000665.1:g.135980851_135980852dup | GRCh37 |
| NC_000003.10:g.137463541_137463542dup | NCBI36 |
| NG_008939.1:g.16685_16686dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.487_488dup MANE Select | ENSP00000251654.4:p.Ala164GlufsTer19 | |
| ENST00000251654.8:c.487_488dup | ENSP00000251654.4:p.Ala164GlufsTer19 | |
| ENST00000459873.1:c.238_239dup | ENSP00000419293.1:p.Ala81GlufsTer19 | |
| ENST00000462542.5:c.354_355dup | ||
| ENST00000462637.5:c.418_419dup | ENSP00000420391.1:p.Ala141GlufsTer19 | |
| ENST00000465176.5:n.449_450dup | ||
| ENST00000466072.5:c.487_488dup | ENSP00000420158.1:p.Ala164GlufsTer19 | |
| ENST00000468777.5:c.580_581dup | ENSP00000419129.1:p.Ala195GlufsTer19 | |
| ENST00000469217.5:c.547_548dup | ENSP00000419027.1:p.Ala184GlufsTer19 | |
| ENST00000471595.5:c.487_488dup | ENSP00000417549.1:p.Ala164GlufsTer19 | |
| ENST00000473073.1:n.444_445dup | ||
| ENST00000474833.5:n.168+11451_168+11452dup | ||
| ENST00000475214.5:n.401_402dup | ||
| ENST00000478469.5:c.487_488dup | ENSP00000420759.1:p.Ala164GlufsTer19 | |
| ENST00000482086.5:c.139_140dup | ENSP00000417253.1:p.Ala48GlufsTer19 | |
| ENST00000483687.5:c.430_431dup | ENSP00000420639.1:p.Ala145GlufsTer19 | |
| ENST00000484181.5:c.487_488dup | ENSP00000417937.1:p.Ala164GlufsTer19 | |
| ENST00000490504.5:c.372+5386_372+5387dup | ENSP00000418307.1:n.372+5386_372+5387dup | |
| ENST00000494742.5:c.238_239dup | ENSP00000418020.1:p.Ala81GlufsTer? | |
| NM_000532.4:c.487_488dup | NP_000523.2:p.Ala164GlufsTer19 | |
| NM_001178014.1:c.547_548dup | NP_001171485.1:p.Ala184GlufsTer19 | |
| XM_011512873.1:c.487_488dup | XP_011511175.1:p.Ala164GlufsTer19 | |
| XM_011512873.2:c.487_488dup | XP_011511175.1:p.Ala164GlufsTer19 | |
| NM_000532.5:c.487_488dup MANE Select | NP_000523.2:p.Ala164GlufsTer19 | |
| NM_001178014.2:c.547_548dup | NP_001171485.1:p.Ala184GlufsTer19 |