Linked Data
ClinVar Variation Id:
1091711
ClinVar RCV Id:
RCV001411289
dbSNP Id:
rs5796316
ExAC:
12:8757522 CA / C
gnomAD v2:
12-8757522-CA-C
gnomAD v3:
12-8604926-CA-C
gnomAD v4:
12-8604926-CA-C
MyVariant Identifiers:
chr12:g.8757524del (hg19)
chr12:g.8757523del (hg19)
chr12:g.8604928del (hg38)
chr12:g.8604927del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8604939del , CM000674.2:g.8604939del | GRCh38 |
| NC_000012.11:g.8757535del , CM000674.1:g.8757535del | GRCh37 |
| NC_000012.10:g.8648802del | NCBI36 |
| NG_011588.1:g.12920del , LRG_17:g.12920del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.428-35del | ENSP00000445691.1:n.428-35del | |
| ENST00000543081.6:c.427+288del | ENSP00000439103.2:n.427+288del | |
| ENST00000544516.6:c.157-590del | ENSP00000439538.2:n.157-590del | |
| ENST00000545576.2:n.824del | ||
| ENST00000696246.1:c.413-35del | ENSP00000512504.1:n.413-35del | |
| ENST00000696271.1:n.835del | ||
| ENST00000696272.1:c.413-5del | ENSP00000512515.1:n.413-5del | |
| ENST00000696273.1:c.461-5del | ENSP00000512516.1:n.461-5del | |
| ENST00000229335.11:c.428-5del MANE Select | ENSP00000229335.6:n.428-5del | |
| ENST00000229335.10:c.428-5del | ENSP00000229335.6:n.428-5del | |
| ENST00000537228.5:c.428-35del | ENSP00000445691.1:n.428-35del | |
| ENST00000543081.5:c.423+288del | ||
| ENST00000544516.5:c.153-590del | ||
| ENST00000545512.1:c.424-5del | ||
| ENST00000545576.1:n.749del | ||
| NM_020661.2:c.428-5del , LRG_17t1:c.428-5del | NP_065712.1:n.428-5del | |
| XM_011520772.1:c.428-35del | XP_011519074.1:n.428-35del | |
| XM_011520773.1:c.427+288del | XP_011519075.1:n.427+288del | |
| NM_001330343.1:c.428-35del | NP_001317272.1:n.428-35del | |
| NM_020661.3:c.428-5del | NP_065712.1:n.428-5del | |
| XM_011520773.2:c.427+288del | XP_011519075.1:n.427+288del | |
| NM_020661.4:c.428-5del MANE Select | NP_065712.1:n.428-5del | |
| NM_001330343.2:c.428-35del | NP_001317272.1:n.428-35del |