Linked Data
ClinVar Variation Id:
2916070
ClinVar RCV Id:
RCV003612414
dbSNP Id:
rs760650564
ExAC:
9:94874863 CAAGT / C
gnomAD v2:
9-94874863-CAAGT-C
gnomAD v3:
9-92112581-CAAGT-C
gnomAD v4:
9-92112581-CAAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92112585_92112588del , CM000671.2:g.92112585_92112588del | GRCh38 |
| NC_000009.11:g.94874867_94874870del , CM000671.1:g.94874867_94874870del | GRCh37 |
| NC_000009.10:g.93914688_93914691del | NCBI36 |
| NG_007950.1:g.7824_7827del , LRG_272:g.7824_7827del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461132.2:c.58-23_58-20del | ENSP00000509096.1:n.58-23_58-20del | |
| ENST00000482632.6:n.468-23_468-20del | ||
| ENST00000488921.6:c.*74-23_*74-20del | ENSP00000510034.1:n.*74-23_*74-20del | |
| ENST00000686600.1:c.58-23_58-20del | ENSP00000509268.1:n.58-23_58-20del | |
| ENST00000686799.1:n.155-23_155-20del | ||
| ENST00000687427.1:c.58-23_58-20del | ENSP00000509426.1:n.58-23_58-20del | |
| ENST00000687817.1:c.58-23_58-20del | ENSP00000508926.1:n.58-23_58-20del | |
| ENST00000687972.1:c.58-23_58-20del | ENSP00000509208.1:n.58-23_58-20del | |
| ENST00000689401.1:c.*74-23_*74-20del | ENSP00000510251.1:n.*74-23_*74-20del | |
| ENST00000689423.1:c.*74-23_*74-20del | ENSP00000508519.1:n.*74-23_*74-20del | |
| ENST00000690139.1:c.58-23_58-20del | ENSP00000510483.1:n.58-23_58-20del | |
| ENST00000692363.1:c.58-23_58-20del | ENSP00000509481.1:n.58-23_58-20del | |
| ENST00000692458.1:n.81-23_81-20del | ||
| ENST00000693147.1:c.*74-23_*74-20del | ENSP00000510358.1:n.*74-23_*74-20del | |
| ENST00000262554.7:c.58-23_58-20del MANE Select | ENSP00000262554.2:n.58-23_58-20del | |
| ENST00000644140.1:c.58-23_58-20del | ENSP00000493933.1:n.58-23_58-20del | |
| ENST00000646534.1:c.58-23_58-20del | ENSP00000495388.1:n.58-23_58-20del | |
| ENST00000262554.6:c.58-23_58-20del | ENSP00000262554.2:n.58-23_58-20del | |
| ENST00000337841.4:c.58-23_58-20del | ENSP00000337635.4:n.58-23_58-20del | |
| ENST00000461132.1:n.26-23_26-20del | ||
| ENST00000482632.5:n.72-23_72-20del | ||
| ENST00000488921.5:n.215-23_215-20del | ||
| NM_001281303.1:c.58-23_58-20del | NP_001268232.1:n.58-23_58-20del | |
| NM_006415.3:c.58-23_58-20del | NP_006406.1:n.58-23_58-20del | |
| NM_178324.2:c.58-23_58-20del | NP_847894.1:n.58-23_58-20del | |
| XM_011518138.1:c.58-23_58-20del | XP_011516440.1:n.58-23_58-20del | |
| XM_011518139.1:c.-408-23_-408-20del | XP_011516441.1:n.-408-23_-408-20del | |
| XM_011518138.2:c.58-23_58-20del | XP_011516440.1:n.58-23_58-20del | |
| XM_011518139.3:c.-408-23_-408-20del | XP_011516441.1:n.-408-23_-408-20del | |
| XM_017014200.2:c.-442-23_-442-20del | XP_016869689.1:n.-442-23_-442-20del | |
| XM_017014201.2:c.-442-23_-442-20del | XP_016869690.1:n.-442-23_-442-20del | |
| XR_002956744.1:n.75-23_75-20del | ||
| NM_006415.4:c.58-23_58-20del MANE Select | NP_006406.1:n.58-23_58-20del | |
| NM_001281303.2:c.58-23_58-20del | NP_001268232.1:n.58-23_58-20del | |
| NM_001368272.1:c.-442-23_-442-20del | NP_001355201.1:n.-442-23_-442-20del | |
| NM_001368273.1:c.-408-23_-408-20del | NP_001355202.1:n.-408-23_-408-20del | |
| NM_178324.3:c.58-23_58-20del | NP_847894.1:n.58-23_58-20del |