Linked Data
ClinVar Variation Id:
374843
ClinVar RCV Id:
RCV000415539
dbSNP Id:
rs1057519266
MyVariant Identifiers:
chr3:g.124951987dupT (hg19)
chr3:g.124951986_124951987insT (hg19)
chr3:g.125233143dupT (hg38)
chr3:g.125233142_125233143insT (hg38)
PubMed:
PMID:27964749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.125233144dup , CM000665.2:g.125233144dup | GRCh38 |
| NC_000003.11:g.124951988dup , CM000665.1:g.124951988dup | GRCh37 |
| NC_000003.10:g.126434678dup | NCBI36 |
| NG_052987.1:g.147212dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471196.2:c.1583dup | ENSP00000420038.2:p.Ser529GlufsTer2 | |
| ENST00000700044.1:c.1583dup | ENSP00000514760.1:p.Ser529GlufsTer2 | |
| ENST00000360647.9:c.1583dup MANE Select | ENSP00000353863.4:p.Ser529GlufsTer2 | |
| ENST00000360647.8:c.1583dup | ENSP00000353863.4:p.Ser529GlufsTer2 | |
| ENST00000468369.5:c.122-489dup | ENSP00000420102.1:n.122-489dup | |
| ENST00000484491.5:c.1583dup | ENSP00000420335.1:p.Ser529GlufsTer2 | |
| ENST00000485866.5:c.1583dup | ENSP00000420448.1:p.Ser529GlufsTer2 | |
| ENST00000492394.5:c.1583dup | ENSP00000419322.1:p.Ser529GlufsTer2 | |
| ENST00000496732.1:n.139dup | ||
| ENST00000497929.1:n.1579dup | ||
| ENST00000544464.5:c.*216dup | ENSP00000437916.2:n.*216dup | |
| NM_021964.2:c.1583dup | NP_068799.2:p.Ser529GlufsTer2 | |
| NM_001348424.1:c.1583dup | NP_001335353.1:p.Ser529GlufsTer2 | |
| NM_001348425.2:c.1583dup | NP_001335354.1:p.Ser529GlufsTer2 | |
| NM_001348426.2:c.1583dup | NP_001335355.1:p.Ser529GlufsTer2 | |
| NM_001348427.2:c.1583dup | NP_001335356.1:p.Ser529GlufsTer2 | |
| NM_001348428.2:c.1583dup | NP_001335357.1:p.Ser529GlufsTer2 | |
| NM_001348429.2:c.1583dup | NP_001335358.1:p.Ser529GlufsTer2 | |
| NM_001348430.2:c.1583dup | NP_001335359.1:p.Ser529GlufsTer2 | |
| NM_001348431.2:c.1583dup | NP_001335360.1:p.Ser529GlufsTer2 | |
| NM_001348432.2:c.1583dup | NP_001335361.1:p.Ser529GlufsTer2 | |
| NM_001348433.2:c.1583dup | NP_001335362.1:p.Ser529GlufsTer2 | |
| NM_001348434.2:c.1457dup | NP_001335363.1:p.Ser487GlufsTer2 | |
| NM_021964.3:c.1583dup MANE Select | NP_068799.2:p.Ser529GlufsTer2 |