Linked Data
ClinVar Variation Id:
1040236
ClinVar RCV Id:
RCV001343840
dbSNP Id:
rs765121016
ExAC:
19:11533430 TCTC / T
gnomAD v2:
19-11533430-TCTC-T
gnomAD v3:
19-11422762-TCTC-T
gnomAD v4:
19-11422762-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11422765_11422767del , CM000681.2:g.11422765_11422767del | GRCh38 |
| NC_000019.9:g.11533433_11533435del , CM000681.1:g.11533433_11533435del | GRCh37 |
| NC_000019.8:g.11394433_11394435del | NCBI36 |
| NG_041777.1:g.18018_18020del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.1213_1215del MANE Select | ENSP00000348757.3:p.Glu405del | |
| ENST00000356392.8:c.1213_1215del | ENSP00000348757.3:p.Glu405del | |
| ENST00000586836.5:c.640_642del | ENSP00000467429.1:p.Glu214del | |
| ENST00000591179.5:c.1033_1035del | ENSP00000466800.1:p.Glu345del | |
| ENST00000591345.5:c.*1132_*1134del | ENSP00000467313.1:n.*1132_*1134del | |
| NM_001302453.1:c.1051_1053del | NP_001289382.1:p.Glu351del | |
| NM_001302454.1:c.1033_1035del | NP_001289383.1:p.Glu345del | |
| NM_145045.4:c.1213_1215del | NP_659482.3:p.Glu405del | |
| NM_145045.5:c.1213_1215del MANE Select | NP_659482.3:p.Glu405del | |
| NM_001302454.2:c.1033_1035del | NP_001289383.1:p.Glu345del |