Linked Data
ClinVar Variation Id:
370514
ClinVar RCV Id:
RCV000412073
dbSNP Id:
rs1057516549
gnomAD v2:
6-74354216-CT-C
gnomAD v4:
6-73644493-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73644494del , CM000668.2:g.73644494del | GRCh38 |
| NC_000006.11:g.74354217del , CM000668.1:g.74354217del | GRCh37 |
| NC_000006.10:g.74410938del | NCBI36 |
| NG_008272.1:g.14521del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.204del MANE Select | ENSP00000348019.5:p.Asp69IlefsTer6 | |
| ENST00000355773.5:c.204del | ENSP00000348019.5:p.Asp69IlefsTer6 | |
| NM_012434.4:c.204del | NP_036566.1:p.Asp69IlefsTer6 | |
| XM_005248710.2:c.153del | XP_005248767.1:p.Asp52IlefsTer6 | |
| XM_005248711.1:c.6del | XP_005248768.1:p.Asp3IlefsTer6 | |
| XM_011535750.1:c.204del | XP_011534052.1:p.Asp69IlefsTer6 | |
| XM_011535751.1:c.204del | XP_011534053.1:p.Asp69IlefsTer6 | |
| NM_012434.5:c.204del MANE Select | NP_036566.1:p.Asp69IlefsTer6 | |
| NM_001382629.1:c.61-2570del | NP_001369558.1:n.61-2570del | |
| NM_001382630.1:c.204del | NP_001369559.1:p.Asp69IlefsTer6 | |
| NM_001382631.1:c.225del | NP_001369560.1:p.Asp76IlefsTer6 | |
| NM_001382632.1:c.204del | NP_001369561.1:p.Asp69IlefsTer6 | |
| NM_001382633.1:c.204del | NP_001369562.1:p.Asp69IlefsTer6 | |
| NM_001382634.1:c.204del | NP_001369563.1:p.Asp69IlefsTer6 | |
| NM_001382635.1:c.204del | NP_001369564.1:p.Asp69IlefsTer6 | |
| NM_001382636.1:c.61-2570del | NP_001369565.1:n.61-2570del |