Linked Data
ClinVar Variation Id:
1320177
ClinVar RCV Id:
RCV001775350
dbSNP Id:
rs780376041
ExAC:
14:88442759 GACTCCCA / G
gnomAD v2:
14-88442759-GACTCCCA-G
gnomAD v4:
14-87976415-GACTCCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976416_87976422del , CM000676.2:g.87976416_87976422del | GRCh38 |
| NC_000014.8:g.88442760_88442766del , CM000676.1:g.88442760_88442766del | GRCh37 |
| NC_000014.7:g.87512513_87512519del | NCBI36 |
| NG_011853.2:g.22142_22148del | |
| NG_011853.3:g.22142_22148del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.688_694del MANE Select | ENSP00000261304.2:p.Trp230ProfsTer19 | |
| ENST00000261304.6:c.688_694del | ENSP00000261304.2:p.Trp230ProfsTer19 | |
| ENST00000393568.8:c.619_625del | ENSP00000377198.4:p.Trp207ProfsTer19 | |
| ENST00000393569.6:c.610_616del | ENSP00000377199.2:p.Trp204ProfsTer19 | |
| ENST00000474294.6:n.678_684del | ||
| ENST00000477716.3:n.443_449del | ||
| ENST00000544807.6:c.520_526del | ENSP00000437513.2:p.Trp174ProfsTer19 | |
| ENST00000554916.5:n.567_573del | ||
| ENST00000555000.5:c.55_61del | ENSP00000450472.1:p.Trp19ProfsTer19 | |
| ENST00000557316.5:c.*86_*92del | ENSP00000452314.1:n.*86_*92del | |
| ENST00000622264.4:c.678_684del | ||
| NM_000153.3:c.688_694del | NP_000144.2:p.Trp230ProfsTer19 | |
| NM_001201401.1:c.619_625del | NP_001188330.1:p.Trp207ProfsTer19 | |
| NM_001201402.1:c.610_616del | NP_001188331.1:p.Trp204ProfsTer19 | |
| XM_011536618.1:c.520_526del | XP_011534920.1:p.Trp174ProfsTer19 | |
| XM_011536618.2:c.520_526del | XP_011534920.1:p.Trp174ProfsTer19 | |
| NM_000153.4:c.688_694del MANE Select | NP_000144.2:p.Trp230ProfsTer19 | |
| NM_001201401.2:c.619_625del | NP_001188330.1:p.Trp207ProfsTer19 | |
| NM_001201402.2:c.610_616del | NP_001188331.1:p.Trp204ProfsTer19 |