Linked Data
ClinVar Variation Id:
1314754
ClinVar RCV Id:
RCV001764137
dbSNP Id:
rs760025285
ExAC:
20:50400955 GC / G
gnomAD v2:
20-50400955-GC-G
gnomAD v4:
20-51784416-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51784421del , CM000682.2:g.51784421del | GRCh38 |
| NC_000020.10:g.50400960del , CM000682.1:g.50400960del | GRCh37 |
| NC_000020.9:g.49834367del | NCBI36 |
| NG_008000.1:g.23093del , LRG_675:g.23093del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217086.9:c.3010del MANE Select | ENSP00000217086.4:p.Ala1004ProfsTer5 | |
| ENST00000217086.8:c.3010del | ENSP00000217086.4:p.Ala1004ProfsTer5 | |
| ENST00000371539.7:c.679del | ENSP00000360594.3:p.Ala227ProfsTer5 | |
| ENST00000395997.3:c.1699del | ENSP00000379319.3:p.Ala567ProfsTer5 | |
| NM_020436.3:c.3010del , LRG_675t1:c.3010del | NP_065169.1:p.Ala1004ProfsTer5 | |
| XM_005260467.2:c.2704del | XP_005260524.1:p.Ala902ProfsTer5 | |
| XM_006723834.2:c.2704del | XP_006723897.1:p.Ala902ProfsTer5 | |
| XM_011528919.1:c.2884del | XP_011527221.1:p.Ala962ProfsTer5 | |
| XM_011528920.1:c.2704del | XP_011527222.1:p.Ala902ProfsTer5 | |
| XM_011528921.1:c.2704del | XP_011527223.1:p.Ala902ProfsTer5 | |
| XM_011528922.1:c.2704del | XP_011527224.1:p.Ala902ProfsTer5 | |
| XM_011528923.1:c.1699del | XP_011527225.1:p.Ala567ProfsTer5 | |
| NM_001318031.1:c.1699del | NP_001304960.1:p.Ala567ProfsTer5 | |
| NM_020436.4:c.3010del | NP_065169.1:p.Ala1004ProfsTer5 | |
| XM_005260467.4:c.2704del | XP_005260524.1:p.Ala902ProfsTer5 | |
| XM_011528921.2:c.2704del | XP_011527223.1:p.Ala902ProfsTer5 | |
| XM_011528922.2:c.2704del | XP_011527224.1:p.Ala902ProfsTer5 | |
| NM_020436.5:c.3010del MANE Select | NP_065169.1:p.Ala1004ProfsTer5 | |
| NM_001318031.2:c.1699del | NP_001304960.1:p.Ala567ProfsTer5 |