Linked Data
dbSNP Id:
rs1944340355
gnomAD v3:
12-54293456-GATTCTTCTGAAAGTCGC-G
gnomAD v4:
12-54293456-GATTCTTCTGAAAGTCGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54293458_54293474del , CM000674.2:g.54293458_54293474del | GRCh38 |
| NC_000012.11:g.54687242_54687258del , CM000674.1:g.54687242_54687258del | GRCh37 |
| NC_000012.10:g.52973509_52973525del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435572.7:c.115-92_115-76del MANE Select | ENSP00000397185.2:n.115-92_115-76del | |
| ENST00000312156.8:c.115-92_115-76del | ENSP00000312436.4:n.115-92_115-76del | |
| ENST00000435572.6:c.115-92_115-76del | ENSP00000397185.2:n.115-92_115-76del | |
| ENST00000540264.2:c.115-92_115-76del | ENSP00000439120.2:n.115-92_115-76del | |
| ENST00000553070.5:c.115-92_115-76del | ENSP00000447558.1:n.115-92_115-76del | |
| ENST00000553198.1:c.115-92_115-76del | ENSP00000446929.1:n.115-92_115-76del | |
| NM_001136023.2:c.115-92_115-76del | NP_001129495.1:n.115-92_115-76del | |
| NM_001261461.1:c.115-92_115-76del | NP_001248390.1:n.115-92_115-76del | |
| NM_006163.2:c.115-92_115-76del | NP_006154.1:n.115-92_115-76del | |
| XM_005268906.3:c.115-92_115-76del | XP_005268963.1:n.115-92_115-76del | |
| XM_011538397.1:c.82-92_82-76del | XP_011536699.1:n.82-92_82-76del | |
| XM_005268906.4:c.115-92_115-76del | XP_005268963.1:n.115-92_115-76del | |
| NM_001136023.3:c.115-92_115-76del MANE Select | NP_001129495.1:n.115-92_115-76del | |
| NM_001261461.2:c.115-92_115-76del | NP_001248390.1:n.115-92_115-76del | |
| NM_006163.3:c.115-92_115-76del | NP_006154.1:n.115-92_115-76del | |
| NM_001400365.1:c.115-92_115-76del | NP_001387294.1:n.115-92_115-76del | |
| NM_001400372.1:c.-189-92_-189-76del | NP_001387301.1:n.-189-92_-189-76del | |
| NM_001400373.1:c.-189-92_-189-76del | NP_001387302.1:n.-189-92_-189-76del |