Linked Data
ClinVar Variation Id:
188826
dbSNP Id:
rs771489305
ExAC:
14:88414088 CT / C
gnomAD v2:
14-88414088-CT-C
gnomAD v4:
14-87947744-CT-C
MyVariant Identifiers:
chr14:g.88414089del (hg19)
chr14:g.88414089delT (hg19)
chr14:g.87947745del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87947746del , CM000676.2:g.87947746del | GRCh38 |
| NC_000014.8:g.88414090del , CM000676.1:g.88414090del | GRCh37 |
| NC_000014.7:g.87483843del | NCBI36 |
| NG_011853.2:g.50819del | |
| NG_011853.3:g.50819del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.1472del MANE Select | ENSP00000261304.2:p.Lys491ArgfsTer? | |
| ENST00000261304.6:c.1472del | ENSP00000261304.2:p.Lys491ArgfsTer? | |
| ENST00000393568.8:c.1403del | ENSP00000377198.4:p.Lys468ArgfsTer? | |
| ENST00000393569.6:c.1394del | ENSP00000377199.2:p.Lys465ArgfsTer? | |
| ENST00000544807.6:c.1304del | ENSP00000437513.2:p.Lys435ArgfsTer? | |
| ENST00000555000.5:c.839del | ENSP00000450472.1:p.Lys280ArgfsTer? | |
| ENST00000555179.1:c.189del | ||
| ENST00000557316.5:c.*870del | ENSP00000452314.1:n.*870del | |
| NM_000153.3:c.1472del | NP_000144.2:p.Lys491ArgfsTer? | |
| NM_001201401.1:c.1403del | NP_001188330.1:p.Lys468ArgfsTer? | |
| NM_001201402.1:c.1394del | NP_001188331.1:p.Lys465ArgfsTer? | |
| XM_011536618.1:c.1304del | XP_011534920.1:p.Lys435ArgfsTer? | |
| XM_011536618.2:c.1304del | XP_011534920.1:p.Lys435ArgfsTer? | |
| NM_000153.4:c.1472del MANE Select | NP_000144.2:p.Lys491ArgfsTer? | |
| NM_001201401.2:c.1403del | NP_001188330.1:p.Lys468ArgfsTer? | |
| NM_001201402.2:c.1394del | NP_001188331.1:p.Lys465ArgfsTer? |