Linked Data
ClinVar Variation Id:
417888
dbSNP Id:
rs764193290
ExAC:
2:238250805 CT / C
gnomAD v2:
2-238250805-CT-C
gnomAD v4:
2-237342162-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237342163del , CM000664.2:g.237342163del | GRCh38 |
| NC_000002.11:g.238250806del , CM000664.1:g.238250806del | GRCh37 |
| NC_000002.10:g.237915545del | NCBI36 |
| NG_008676.1:g.77045del , LRG_473:g.77045del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.314-2del | ||
| ENST00000353578.9:c.7051-2del | ENSP00000315873.4:n.7051-2del | |
| ENST00000295550.9:c.7669-2del MANE Select | ENSP00000295550.4:n.7669-2del | |
| ENST00000295550.8:c.7669-2del | ENSP00000295550.4:n.7669-2del | |
| ENST00000347401.7:c.5845-2del | ENSP00000315609.4:n.5845-2del | |
| ENST00000353578.8:c.7051-2del | ENSP00000315873.4:n.7051-2del | |
| ENST00000409809.5:c.7051-2del | ENSP00000386844.1:n.7051-2del | |
| ENST00000472056.5:c.5848-2del | ENSP00000418285.1:n.5848-2del | |
| ENST00000491769.1:n.4109del | ||
| NM_004369.3:c.7669-2del , LRG_473t1:c.7669-2del | NP_004360.2:n.7669-2del | |
| NM_057166.4:c.5848-2del | NP_476507.3:n.5848-2del | |
| NM_057167.3:c.7051-2del | NP_476508.2:n.7051-2del | |
| XM_005246065.1:c.7069-2del | XP_005246122.1:n.7069-2del | |
| XM_005246066.1:c.6448-2del | XP_005246123.1:n.6448-2del | |
| XM_006712253.1:c.7168-2del | XP_006712316.1:n.7168-2del | |
| XM_011510574.1:c.7666-2del | XP_011508876.1:n.7666-2del | |
| XM_011510575.1:c.5263-2del | XP_011508877.1:n.5263-2del | |
| XM_017003304.1:c.5263-2del | XP_016858793.1:n.5263-2del | |
| XM_024452684.1:c.6448-2del | XP_024308452.1:n.6448-2del | |
| NM_004369.4:c.7669-2del MANE Select | NP_004360.2:n.7669-2del | |
| NM_057166.5:c.5848-2del | NP_476507.3:n.5848-2del | |
| NM_057167.4:c.7051-2del | NP_476508.2:n.7051-2del |