Linked Data
ClinVar Variation Id:
1723169
ClinVar RCV Id:
RCV002306269
dbSNP Id:
rs780647514
gnomAD v2:
1-171621679-A-AGGCCAGAAGCAGCAGCT
gnomAD v3:
1-171652539-A-AGGCCAGAAGCAGCAGCT
gnomAD v4:
1-171652539-A-AGGCCAGAAGCAGCAGCT
MyVariant Identifiers:
chr1:g.171621679_171621680insGGCCAGAAGCAGCAGCT (hg19)
chr1:g.171652539_171652540insGGCCAGAAGCAGCAGCT (hg38)
ERepo:
CA1244333/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652542_171652558dup , CM000663.2:g.171652542_171652558dup | GRCh38 |
| NC_000001.10:g.171621682_171621698dup , CM000663.1:g.171621682_171621698dup | GRCh37 |
| NC_000001.9:g.169888305_169888321dup | NCBI36 |
| NG_008859.1:g.5078_5094dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.56_72dup MANE Select | ENSP00000037502.5:p.Cys25SerfsTer? | |
| ENST00000638471.1:c.56_72dup | ENSP00000491206.1:p.Cys25SerfsTer? | |
| ENST00000037502.10:c.56_72dup | ENSP00000037502.5:p.Cys25SerfsTer? | |
| ENST00000614688.1:c.56_72dup | ENSP00000478680.1:p.Cys25SerfsTer? | |
| NM_000261.1:c.56_72dup | NP_000252.1:p.Cys25SerfsTer? | |
| NM_000261.2:c.56_72dup MANE Select | NP_000252.1:p.Cys25SerfsTer? |