Linked Data
ClinVar Variation Id:
1928926
ClinVar RCV Id:
RCV002642246
dbSNP Id:
rs545677946
ExAC:
12:6952249 TG / T
gnomAD v2:
12-6952249-TG-T
gnomAD v3:
12-6843085-TG-T
gnomAD v4:
12-6843085-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6843092del , CM000674.2:g.6843092del | GRCh38 |
| NC_000012.11:g.6952256del , CM000674.1:g.6952256del | GRCh37 |
| NC_000012.10:g.6822517del | NCBI36 |
| NG_009100.1:g.7882del | |
| NG_009100.2:g.7882del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.203+16del MANE Select | ENSP00000229264.3:n.203+16del | |
| ENST00000229264.7:c.203+16del | ENSP00000229264.3:n.203+16del | |
| ENST00000435982.6:c.203+16del | ENSP00000414734.2:n.203+16del | |
| ENST00000537035.1:c.203+16del | ENSP00000445967.1:n.203+16del | |
| ENST00000539127.5:c.*223+16del | ENSP00000444325.1:n.*223+16del | |
| ENST00000540458.5:n.1554+16del | ||
| ENST00000541257.5:c.203+16del | ENSP00000442002.1:n.203+16del | |
| ENST00000541978.5:c.203+16del | ENSP00000439753.2:n.203+16del | |
| NM_001297571.1:c.203+16del | NP_001284500.1:n.203+16del | |
| NM_002075.3:c.203+16del | NP_002066.1:n.203+16del | |
| XM_011520953.1:c.203+16del | XP_011519255.1:n.203+16del | |
| XM_011520954.1:c.203+16del | XP_011519256.1:n.203+16del | |
| XM_011520953.3:c.203+16del | XP_011519255.1:n.203+16del | |
| NM_001297571.2:c.203+16del | NP_001284500.1:n.203+16del | |
| NM_002075.4:c.203+16del MANE Select | NP_002066.1:n.203+16del |