Linked Data
ClinVar Variation Id:
352684
ClinVar RCV Id:
RCV000288886
dbSNP Id:
rs374572858
gnomAD v2:
5-16474794-TC-T
gnomAD v3:
5-16474685-TC-T
gnomAD v4:
5-16474685-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.16474686del , CM000667.2:g.16474686del | GRCh38 |
| NC_000005.9:g.16474795del , CM000667.1:g.16474795del | GRCh37 |
| NC_000005.8:g.16527795del | NCBI36 |
| NG_016644.2:g.147324del , LRG_363:g.147324del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509977.2:n.1197del | ||
| ENST00000510362.6:c.*55del | ENSP00000425089.2:n.*55del | |
| ENST00000682142.1:c.*55del | ENSP00000506804.1:n.*55del | |
| ENST00000682229.1:c.*55del | ENSP00000507342.1:n.*55del | |
| ENST00000682564.1:c.*55del | ENSP00000508099.1:n.*55del | |
| ENST00000682628.1:c.*55del | ENSP00000507536.1:n.*55del | |
| ENST00000682982.1:n.2323del | ||
| ENST00000683045.1:n.6093del | ||
| ENST00000683130.1:c.*795del | ENSP00000507709.1:n.*795del | |
| ENST00000683169.1:n.2048del | ||
| ENST00000683414.1:c.*55del | ENSP00000508335.1:n.*55del | |
| ENST00000683527.1:c.*848del | ENSP00000507253.1:n.*848del | |
| ENST00000683539.1:c.*55del | ENSP00000507466.1:n.*55del | |
| ENST00000684456.1:c.*55del | ENSP00000508060.1:n.*55del | |
| ENST00000684521.1:c.*55del | ENSP00000507521.1:n.*55del | |
| ENST00000684695.1:n.3819del | ||
| ENST00000306320.10:c.*55del MANE Select | ENSP00000304642.9:n.*55del | |
| ENST00000306320.9:c.*55del | ENSP00000304642.9:n.*55del | |
| ENST00000399793.6:c.*55del | ENSP00000382691.2:n.*55del | |
| ENST00000510362.5:c.708del | ||
| NM_001034850.2:c.*55del , LRG_363t1:c.*55del | NP_001030022.1:n.*55del | |
| NM_019000.4:c.*55del | NP_061873.2:n.*55del | |
| XM_011514053.1:c.*55del | XP_011512355.1:n.*55del | |
| XM_011514054.1:c.*55del | XP_011512356.1:n.*55del | |
| XM_011514055.1:c.*55del | XP_011512357.1:n.*55del | |
| XM_011514053.3:c.*55del | XP_011512355.1:n.*55del | |
| XM_011514054.2:c.*55del | XP_011512356.1:n.*55del | |
| XM_011514055.3:c.*55del | XP_011512357.1:n.*55del | |
| XM_024446117.1:c.*55del | XP_024301885.1:n.*55del | |
| XM_024446118.1:c.*55del | XP_024301886.1:n.*55del | |
| NM_001034850.3:c.*55del MANE Select | NP_001030022.1:n.*55del | |
| NM_019000.5:c.*55del | NP_061873.2:n.*55del |