Linked Data
ClinVar Variation Id:
421585
dbSNP Id:
rs1064795229
gnomAD v3:
7-128844253-CT-C
gnomAD v4:
7-128844253-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128844254del , CM000669.2:g.128844254del | GRCh38 |
| NC_000007.13:g.128484308del , CM000669.1:g.128484308del | GRCh37 |
| NC_000007.12:g.128271544del | NCBI36 |
| NG_011807.1:g.18826del , LRG_870:g.18826del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.3180del MANE Select | ENSP00000327145.8:p.Asp1061IlefsTer17 | |
| ENST00000325888.12:c.3180del | ENSP00000327145.8:p.Asp1061IlefsTer17 | |
| ENST00000346177.6:c.3180del | ENSP00000344002.6:p.Asp1061IlefsTer17 | |
| NM_001127487.1:c.3180del | NP_001120959.1:p.Asp1061IlefsTer17 | |
| NM_001458.4:c.3180del , LRG_870t1:c.3180del | NP_001449.3:p.Asp1061IlefsTer17 | |
| NM_001127487.2:c.3180del | NP_001120959.1:p.Asp1061IlefsTer17 | |
| NM_001458.5:c.3180del MANE Select | NP_001449.3:p.Asp1061IlefsTer17 |