Linked Data
ClinVar Variation Id:
368840
ClinVar RCV Id:
RCV000301880
dbSNP Id:
rs57914150
gnomAD v2:
1-161334533-CA-C
gnomAD v3:
1-161364743-CA-C
gnomAD v4:
1-161364743-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161364751del , CM000663.2:g.161364751del | GRCh38 |
| NC_000001.10:g.161334541del , CM000663.1:g.161334541del | GRCh37 |
| NC_000001.9:g.159601165del | NCBI36 |
| NG_012767.1:g.55376del , LRG_317:g.55376del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367974.2:c.*221del (CFAP126) MANE Select | ENSP00000356951.1:n.*221del | |
| ENST00000367974.1:c.*221del (CFAP126) | ENSP00000356951.1:n.*221del | |
| ENST00000367975.6:c.*2318del (SDHC) | ENSP00000356953.2:n.*2318del | |
| NM_001013625.3:c.*221del (CFAP126) | NP_001013647.2:n.*221del | |
| NM_001035511.1:c.*2211del (SDHC) | NP_001030588.1:n.*2211del | |
| NM_001035512.1:c.*2318del (SDHC) | NP_001030589.1:n.*2318del | |
| NM_001035513.1:c.*2318del (SDHC) | NP_001030590.1:n.*2318del | |
| NM_001278172.1:c.*2211del (SDHC) | NP_001265101.1:n.*2211del | |
| NM_003001.3:c.*2318del , LRG_317t1:c.*2318del (SDHC) | NP_002992.1:n.*2318del | |
| NR_103459.1:n.2885del (SDHC) | ||
| NM_001013625.4:c.*221del (CFAP126) MANE Select | NP_001013647.2:n.*221del | |
| NM_001035511.2:c.*2211del (SDHC) | NP_001030588.1:n.*2211del | |
| NM_001035512.2:c.*2318del (SDHC) | NP_001030589.1:n.*2318del | |
| NM_001035513.2:c.*2318del (SDHC) | NP_001030590.1:n.*2318del | |
| NM_001278172.2:c.*2211del (SDHC) | NP_001265101.1:n.*2211del | |
| NR_103459.2:n.2880del (SDHC) |