Linked Data
ClinVar Variation Id:
1698724
dbSNP Id:
rs779307074
ExAC:
1:171621225 TC / T
gnomAD v2:
1-171621225-TC-T
gnomAD v4:
1-171652085-TC-T
ERepo:
CA1244262/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652087del , CM000663.2:g.171652087del | GRCh38 |
| NC_000001.10:g.171621227del , CM000663.1:g.171621227del | GRCh37 |
| NC_000001.9:g.169887850del | NCBI36 |
| NG_008859.1:g.5548del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.526del MANE Select | ENSP00000037502.5:p.Glu176ArgfsTer2 | |
| ENST00000638471.1:c.130+396del | ENSP00000491206.1:n.130+396del | |
| ENST00000037502.10:c.526del | ENSP00000037502.5:p.Glu176ArgfsTer2 | |
| ENST00000614688.1:c.526del | ENSP00000478680.1:p.Glu176ArgfsTer2 | |
| NM_000261.1:c.526del | NP_000252.1:p.Glu176ArgfsTer2 | |
| NM_000261.2:c.526del MANE Select | NP_000252.1:p.Glu176ArgfsTer2 |