Linked Data
dbSNP Id:
rs983312425
gnomAD v2:
14-88413884-TC-T
gnomAD v3:
14-87947540-TC-T
gnomAD v4:
14-87947540-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87947542del , CM000676.2:g.87947542del | GRCh38 |
| NC_000014.8:g.88413886del , CM000676.1:g.88413886del | GRCh37 |
| NC_000014.7:g.87483639del | NCBI36 |
| NG_011853.2:g.51023del | |
| NG_011853.3:g.51023del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1489+187del MANE Select | ENSP00000261304.2:n.1489+187del | |
| ENST00000261304.6:c.1489+187del | ENSP00000261304.2:n.1489+187del | |
| ENST00000393568.8:c.1420+187del | ENSP00000377198.4:n.1420+187del | |
| ENST00000393569.6:c.1411+187del | ENSP00000377199.2:n.1411+187del | |
| ENST00000544807.6:c.1321+187del | ENSP00000437513.2:n.1321+187del | |
| ENST00000555000.5:c.856+187del | ENSP00000450472.1:n.856+187del | |
| ENST00000555179.1:c.206+187del | ||
| ENST00000557316.5:c.*887+187del | ENSP00000452314.1:n.*887+187del | |
| NM_000153.3:c.1489+187del | NP_000144.2:n.1489+187del | |
| NM_001201401.1:c.1420+187del | NP_001188330.1:n.1420+187del | |
| NM_001201402.1:c.1411+187del | NP_001188331.1:n.1411+187del | |
| XM_011536618.1:c.1321+187del | XP_011534920.1:n.1321+187del | |
| XM_011536618.2:c.1321+187del | XP_011534920.1:n.1321+187del | |
| NM_000153.4:c.1489+187del MANE Select | NP_000144.2:n.1489+187del | |
| NM_001201401.2:c.1420+187del | NP_001188330.1:n.1420+187del | |
| NM_001201402.2:c.1411+187del | NP_001188331.1:n.1411+187del |