Linked Data
ClinVar Variation Id:
1989136
ClinVar RCV Id:
RCV002786357
gnomAD v4:
X-154368095-GAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154368098_154368100del , CM000685.2:g.154368098_154368100del | GRCh38 |
| NC_000023.10:g.153596466_153596468del , CM000685.1:g.153596466_153596468del | GRCh37 |
| NC_000023.9:g.153249660_153249662del | NCBI36 |
| NG_011506.1:g.11541_11543del | |
| NG_011506.2:g.11541_11543del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.374-8_374-6del | ENSP00000353467.4:n.374-8_374-6del | |
| ENST00000369850.10:c.374-8_374-6del MANE Select | ENSP00000358866.3:n.374-8_374-6del | |
| ENST00000369856.8:c.293-8_293-6del | ENSP00000358872.4:n.293-8_293-6del | |
| ENST00000422373.6:c.374-8_374-6del | ENSP00000416926.2:n.374-8_374-6del | |
| ENST00000610817.5:c.374-8_374-6del | ENSP00000480593.2:n.374-8_374-6del | |
| ENST00000676696.1:c.374-8_374-6del | ENSP00000503392.1:n.374-8_374-6del | |
| ENST00000344736.8:c.374-8_374-6del | ENSP00000358863.3:n.374-8_374-6del | |
| ENST00000360319.8:c.374-8_374-6del | ENSP00000353467.4:n.374-8_374-6del | |
| ENST00000369850.7:c.374-8_374-6del | ENSP00000358866.3:n.374-8_374-6del | |
| ENST00000369856.7:c.293-8_293-6del | ENSP00000358872.4:n.293-8_293-6del | |
| ENST00000420627.5:c.332-8_332-6del | ENSP00000408921.1:n.332-8_332-6del | |
| ENST00000422373.5:c.374-8_374-6del | ENSP00000416926.1:n.374-8_374-6del | |
| ENST00000610817.4:c.293-8_293-6del | ENSP00000480593.1:n.293-8_293-6del | |
| NM_001110556.1:c.374-8_374-6del | NP_001104026.1:n.374-8_374-6del | |
| NM_001456.3:c.374-8_374-6del | NP_001447.2:n.374-8_374-6del | |
| XM_011531127.1:c.374-8_374-6del | XP_011529429.1:n.374-8_374-6del | |
| XM_011531128.1:c.374-8_374-6del | XP_011529430.1:n.374-8_374-6del | |
| XM_011531129.1:c.374-8_374-6del | XP_011529431.1:n.374-8_374-6del | |
| XM_011531130.1:c.374-8_374-6del | XP_011529432.1:n.374-8_374-6del | |
| XM_011531131.1:c.374-8_374-6del | XP_011529433.1:n.374-8_374-6del | |
| NM_001110556.2:c.374-8_374-6del MANE Select | NP_001104026.1:n.374-8_374-6del | |
| NM_001456.4:c.374-8_374-6del | NP_001447.2:n.374-8_374-6del |