Linked Data
dbSNP Id:
rs779726162
ExAC:
14:88401029 AAAG / A
gnomAD v2:
14-88401029-AAAG-A
gnomAD v3:
14-87934685-AAAG-A
gnomAD v4:
14-87934685-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87934689_87934691del , CM000676.2:g.87934689_87934691del | GRCh38 |
| NC_000014.8:g.88401033_88401035del , CM000676.1:g.88401033_88401035del | GRCh37 |
| NC_000014.7:g.87470786_87470788del | NCBI36 |
| NG_011853.2:g.63876_63878del | |
| NG_011853.3:g.63876_63878del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.*44_*46del MANE Select | ENSP00000261304.2:n.*44_*46del | |
| ENST00000261304.6:c.*44_*46del | ENSP00000261304.2:n.*44_*46del | |
| ENST00000393568.8:c.*44_*46del | ENSP00000377198.4:n.*44_*46del | |
| ENST00000393569.6:c.*44_*46del | ENSP00000377199.2:n.*44_*46del | |
| ENST00000544807.6:c.1744-689_1744-687del | ENSP00000437513.2:n.1744-689_1744-687del | |
| ENST00000555000.5:c.1279-689_1279-687del | ENSP00000450472.1:n.1279-689_1279-687del | |
| NM_000153.3:c.*44_*46del | NP_000144.2:n.*44_*46del | |
| NM_001201401.1:c.*44_*46del | NP_001188330.1:n.*44_*46del | |
| NM_001201402.1:c.*44_*46del | NP_001188331.1:n.*44_*46del | |
| XM_011536618.1:c.*44_*46del | XP_011534920.1:n.*44_*46del | |
| XM_011536618.2:c.*44_*46del | XP_011534920.1:n.*44_*46del | |
| NM_000153.4:c.*44_*46del MANE Select | NP_000144.2:n.*44_*46del | |
| NM_001201401.2:c.*44_*46del | NP_001188330.1:n.*44_*46del | |
| NM_001201402.2:c.*44_*46del | NP_001188331.1:n.*44_*46del |