Linked Data
ClinVar Variation Id:
297906
ClinVar RCV Id:
RCV000361894
dbSNP Id:
rs45542640
gnomAD v2:
1-6526240-GCGCC-G
gnomAD v3:
1-6466180-GCGCC-G
gnomAD v4:
1-6466180-GCGCC-G
MyVariant Identifiers:
chr1:g.6526241_6526244del (hg19)
chr1:g.6466182_6466185del (hg38)
chr1:g.6466181_6466184del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6466184_6466187del , CM000663.2:g.6466184_6466187del | GRCh38 |
| NC_000001.10:g.6526244_6526247del , CM000663.1:g.6526244_6526247del | GRCh37 |
| NC_000001.9:g.6448831_6448834del | NCBI36 |
| NG_007978.1:g.58826_58829del , LRG_262:g.58826_58829del | |
| NG_029910.1:g.5012_5015del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340850.9:c.*1379_*1382del (PLEKHG5) | ENSP00000344570.5:n.*1379_*1382del | |
| ENST00000356876.7:c.-77_-74del (TNFRSF25) | ENSP00000349341.3:n.-77_-74del | |
| ENST00000377748.5:c.*1379_*1382del (PLEKHG5) | ENSP00000366977.1:n.*1379_*1382del | |
| ENST00000400913.5:c.*1379_*1382del (PLEKHG5) | ENSP00000383704.1:n.*1379_*1382del | |
| ENST00000489097.5:n.4876_4879del (PLEKHG5) | ||
| ENST00000535355.5:c.*1379_*1382del (PLEKHG5) | ENSP00000441445.1:n.*1379_*1382del | |
| ENST00000537245.5:c.*1379_*1382del (PLEKHG5) | ENSP00000439625.1:n.*1379_*1382del | |
| NM_001039664.1:c.-77_-74del (TNFRSF25) | NP_001034753.1:n.-77_-74del | |
| NM_001042663.1:c.*1379_*1382del (PLEKHG5) | NP_001036128.1:n.*1379_*1382del | |
| NM_001042664.1:c.*1379_*1382del (PLEKHG5) | NP_001036129.1:n.*1379_*1382del | |
| NM_001042665.1:c.*1379_*1382del (PLEKHG5) | NP_001036130.1:n.*1379_*1382del | |
| NM_001265592.1:c.*1379_*1382del (PLEKHG5) | NP_001252521.1:n.*1379_*1382del | |
| NM_001265593.1:c.*1379_*1382del (PLEKHG5) | NP_001252522.1:n.*1379_*1382del | |
| NM_001265594.1:c.*1407_*1410del (PLEKHG5) | NP_001252523.1:n.*1407_*1410del | |
| NM_003790.2:c.-77_-74del (TNFRSF25) | NP_003781.1:n.-77_-74del | |
| NM_020631.4:c.*1379_*1382del (PLEKHG5) | NP_065682.2:n.*1379_*1382del | |
| NM_148965.1:c.-77_-74del (TNFRSF25) | NP_683866.1:n.-77_-74del | |
| NM_148966.1:c.-77_-74del (TNFRSF25) | NP_683867.1:n.-77_-74del | |
| NM_148967.1:c.-77_-74del (TNFRSF25) | NP_683868.1:n.-77_-74del | |
| NM_148970.1:c.-77_-74del (TNFRSF25) | NP_683871.1:n.-77_-74del | |
| NM_198681.3:c.*1379_*1382del (PLEKHG5) | NP_941374.2:n.*1379_*1382del | |
| NM_001042663.2:c.*1379_*1382del (PLEKHG5) | NP_001036128.1:n.*1379_*1382del | |
| NM_001265594.2:c.*1407_*1410del (PLEKHG5) | NP_001252523.1:n.*1407_*1410del | |
| NM_020631.5:c.*1379_*1382del (PLEKHG5) | NP_065682.2:n.*1379_*1382del |