Linked Data
dbSNP Id:
rs1322827482
gnomAD v2:
14-88401089-TC-T
gnomAD v3:
14-87934745-TC-T
gnomAD v4:
14-87934745-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87934747del , CM000676.2:g.87934747del | GRCh38 |
| NC_000014.8:g.88401091del , CM000676.1:g.88401091del | GRCh37 |
| NC_000014.7:g.87470844del | NCBI36 |
| NG_011853.2:g.63818del | |
| NG_011853.3:g.63818del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.2044del MANE Select | ENSP00000261304.2:p.Glu682LysfsTer7 | |
| ENST00000261304.6:c.2044del | ENSP00000261304.2:p.Glu682LysfsTer7 | |
| ENST00000393568.8:c.1975del | ENSP00000377198.4:p.Glu659LysfsTer7 | |
| ENST00000393569.6:c.1966del | ENSP00000377199.2:p.Glu656LysfsTer7 | |
| ENST00000544807.6:c.1744-747del | ENSP00000437513.2:n.1744-747del | |
| ENST00000555000.5:c.1279-747del | ENSP00000450472.1:n.1279-747del | |
| NM_000153.3:c.2044del | NP_000144.2:p.Glu682LysfsTer7 | |
| NM_001201401.1:c.1975del | NP_001188330.1:p.Glu659LysfsTer7 | |
| NM_001201402.1:c.1966del | NP_001188331.1:p.Glu656LysfsTer7 | |
| XM_011536618.1:c.1876del | XP_011534920.1:p.Glu626LysfsTer7 | |
| XM_011536618.2:c.1876del | XP_011534920.1:p.Glu626LysfsTer7 | |
| NM_000153.4:c.2044del MANE Select | NP_000144.2:p.Glu682LysfsTer7 | |
| NM_001201401.2:c.1975del | NP_001188330.1:p.Glu659LysfsTer7 | |
| NM_001201402.2:c.1966del | NP_001188331.1:p.Glu656LysfsTer7 |