Linked Data
ClinVar Variation Id:
347103
ClinVar RCV Id:
RCV000290573
dbSNP Id:
rs886058971
gnomAD v2:
4-104510661-CAT-C
gnomAD v3:
4-103589504-CAT-C
gnomAD v4:
4-103589504-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103589505_103589506del , CM000666.2:g.103589505_103589506del | GRCh38 |
| NC_000004.11:g.104510662_104510663del , CM000666.1:g.104510662_104510663del | GRCh37 |
| NC_000004.10:g.104730111_104730112del | NCBI36 |
| NG_023344.1:g.135311_135312del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304883.3:c.*176_*177del MANE Select | ENSP00000303325.2:n.*176_*177del | |
| ENST00000304883.2:c.*176_*177del | ENSP00000303325.2:n.*176_*177del | |
| NM_001059.2:c.*176_*177del | NP_001050.1:n.*176_*177del | |
| NM_001059.3:c.*176_*177del MANE Select | NP_001050.1:n.*176_*177del |