Linked Data
ClinVar Variation Id:
342464
ClinVar RCV Id:
RCV000341106
dbSNP Id:
rs886057733
gnomAD v3:
3-10152082-AT-A
gnomAD v4:
3-10152082-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10152083del , CM000665.2:g.10152083del | GRCh38 |
| NC_000003.11:g.10193767del , CM000665.1:g.10193767del | GRCh37 |
| NC_000003.10:g.10168767del | NCBI36 |
| NG_008212.3:g.15449del , LRG_322:g.15449del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696153.1:c.*2118del | ENSP00000512444.1:n.*2118del | |
| ENST00000256474.3:c.*2118del MANE Select | ENSP00000256474.3:n.*2118del | |
| ENST00000256474.2:c.*2118del | ENSP00000256474.2:n.*2118del | |
| NM_000551.3:c.*2118del , LRG_322t1:c.*2118del | NP_000542.1:n.*2118del | |
| NM_198156.2:c.*2118del | NP_937799.1:n.*2118del | |
| NM_001354723.1:c.*2314del | NP_001341652.1:n.*2314del | |
| NM_000551.4:c.*2118del MANE Select | NP_000542.1:n.*2118del | |
| NM_001354723.2:c.*2314del | NP_001341652.1:n.*2314del | |
| NM_198156.3:c.*2118del | NP_937799.1:n.*2118del |