Linked Data
ClinVar Variation Id:
218947
ClinVar RCV Id:
RCV000239600
dbSNP Id:
rs879255537
MyVariant Identifiers:
chr20:g.50408612dupC (hg19)
chr20:g.50408611_50408612insC (hg19)
chr20:g.51792073dupC (hg38)
chr20:g.51792072_51792073insC (hg38)
PubMed:
PMID:26791099
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51792074dup , CM000682.2:g.51792074dup | GRCh38 |
| NC_000020.10:g.50408613dup , CM000682.1:g.50408613dup | GRCh37 |
| NC_000020.9:g.49842020dup | NCBI36 |
| NG_008000.1:g.15437dup , LRG_675:g.15437dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217086.9:c.410dup MANE Select | ENSP00000217086.4:p.Gly138ArgfsTer? | |
| ENST00000217086.8:c.410dup | ENSP00000217086.4:p.Gly138ArgfsTer? | |
| ENST00000371539.7:c.131-2932dup | ENSP00000360594.3:n.131-2932dup | |
| ENST00000395997.3:c.410dup | ENSP00000379319.3:p.Gly138ArgfsTer? | |
| ENST00000481363.1:n.600dup | ||
| ENST00000483130.1:n.692dup | ||
| NM_020436.3:c.410dup , LRG_675t1:c.410dup | NP_065169.1:p.Gly138ArgfsTer? | |
| XM_005260467.2:c.104dup | XP_005260524.1:p.Gly36ArgfsTer? | |
| XM_006723834.2:c.104dup | XP_006723897.1:p.Gly36ArgfsTer? | |
| XM_011528919.1:c.284dup | XP_011527221.1:p.Gly96ArgfsTer? | |
| XM_011528920.1:c.104dup | XP_011527222.1:p.Gly36ArgfsTer? | |
| XM_011528921.1:c.104dup | XP_011527223.1:p.Gly36ArgfsTer? | |
| XM_011528922.1:c.104dup | XP_011527224.1:p.Gly36ArgfsTer? | |
| XM_011528923.1:c.410dup | XP_011527225.1:p.Gly138ArgfsTer? | |
| NM_001318031.1:c.410dup | NP_001304960.1:p.Gly138ArgfsTer? | |
| NM_020436.4:c.410dup | NP_065169.1:p.Gly138ArgfsTer? | |
| XM_005260467.4:c.104dup | XP_005260524.1:p.Gly36ArgfsTer? | |
| XM_011528921.2:c.104dup | XP_011527223.1:p.Gly36ArgfsTer? | |
| XM_011528922.2:c.104dup | XP_011527224.1:p.Gly36ArgfsTer? | |
| NM_020436.5:c.410dup MANE Select | NP_065169.1:p.Gly138ArgfsTer? | |
| NM_001318031.2:c.410dup | NP_001304960.1:p.Gly138ArgfsTer? |