Linked Data
ClinVar Variation Id:
353216
dbSNP Id:
rs753485165
ExAC:
5:33951737 ACT / A
gnomAD v2:
5-33951737-ACT-A
gnomAD v3:
5-33951632-ACT-A
gnomAD v4:
5-33951632-ACT-A
PubMed:
PMID:18463683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33951635_33951636del , CM000667.2:g.33951635_33951636del | GRCh38 |
| NC_000005.9:g.33951740_33951741del , CM000667.1:g.33951740_33951741del | GRCh37 |
| NC_000005.8:g.33987497_33987498del | NCBI36 |
| NG_011691.2:g.38042_38043del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1076_1077del MANE Select | ENSP00000296589.4:p.Glu359ValfsTer? | |
| ENST00000296589.8:c.1076_1077del | ENSP00000296589.4:p.Glu359ValfsTer? | |
| ENST00000382102.7:c.1076_1077del | ENSP00000371534.3:p.Glu359ValfsTer? | |
| ENST00000509381.1:c.*18_*19del | ENSP00000421100.1:n.*18_*19del | |
| ENST00000510600.1:c.551_552del | ENSP00000424010.1:p.Glu184ValfsTer? | |
| NM_001012509.3:c.1076_1077del | NP_001012527.1:p.Glu359ValfsTer? | |
| NM_001297417.2:c.*18_*19del | NP_001284346.2:n.*18_*19del | |
| NM_016180.4:c.1076_1077del | NP_057264.3:p.Glu359ValfsTer? | |
| XM_011514051.1:c.674_675del | XP_011512353.1:p.Glu225ValfsTer? | |
| XR_925620.1:n.1893_1894del | ||
| NM_016180.5:c.1076_1077del MANE Select | NP_057264.4:p.Glu359ValfsTer? | |
| NM_001012509.4:c.1076_1077del | NP_001012527.2:p.Glu359ValfsTer? | |
| NM_001297417.3:c.*18_*19del | NP_001284346.2:n.*18_*19del | |
| NM_001297417.4:c.*18_*19del | NP_001284346.2:n.*18_*19del |