Linked Data
ClinVar Variation Id:
309395
ClinVar RCV Id:
RCV000380247
dbSNP Id:
rs556349961
gnomAD v2:
12-52203447-CAT-C
gnomAD v3:
12-51809663-CAT-C
gnomAD v4:
12-51809663-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51809664_51809665del , CM000674.2:g.51809664_51809665del | GRCh38 |
| NC_000012.11:g.52203448_52203449del , CM000674.1:g.52203448_52203449del | GRCh37 |
| NC_000012.10:g.50489715_50489716del | NCBI36 |
| NG_021180.2:g.223429_223430del | |
| NG_021180.3:g.224707_224708del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.*2235_*2236del MANE Plus Clinical | ENSP00000346534.4:n.*2235_*2236del | |
| ENST00000627620.5:c.*2235_*2236del MANE Select | ENSP00000487583.2:n.*2235_*2236del | |
| ENST00000354534.10:c.*2235_*2236del | ENSP00000346534.4:n.*2235_*2236del | |
| ENST00000545061.5:c.*2235_*2236del | ENSP00000440360.1:n.*2235_*2236del | |
| NM_001177984.2:c.*2235_*2236del | NP_001171455.1:n.*2235_*2236del | |
| NM_014191.3:c.*2235_*2236del | NP_055006.1:n.*2235_*2236del | |
| XM_006719556.2:c.*2235_*2236del | XP_006719619.1:n.*2235_*2236del | |
| XM_011538650.1:c.*2235_*2236del | XP_011536952.1:n.*2235_*2236del | |
| XM_011538651.1:c.*2235_*2236del | XP_011536953.1:n.*2235_*2236del | |
| NM_001330260.1:c.*2235_*2236del | NP_001317189.1:n.*2235_*2236del | |
| XM_006719556.4:c.*2235_*2236del | XP_006719619.1:n.*2235_*2236del | |
| XM_011538651.3:c.*2235_*2236del | XP_011536953.1:n.*2235_*2236del | |
| XM_017019794.2:c.*2235_*2236del | XP_016875283.1:n.*2235_*2236del | |
| XM_017019795.2:c.*2235_*2236del | XP_016875284.1:n.*2235_*2236del | |
| NM_001330260.2:c.*2235_*2236del MANE Select | NP_001317189.1:n.*2235_*2236del | |
| NM_001369788.1:c.*2235_*2236del | NP_001356717.1:n.*2235_*2236del | |
| NM_014191.4:c.*2235_*2236del MANE Plus Clinical | NP_055006.1:n.*2235_*2236del | |
| NM_001177984.3:c.*2235_*2236del | NP_001171455.1:n.*2235_*2236del |