Linked Data
ClinVar Variation Id:
4412
ClinVar RCV Id:
RCV000004662
dbSNP Id:
rs386134188
gnomAD v4:
2-201704570-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201704571del , CM000664.2:g.201704571del | GRCh38 |
| NC_000002.11:g.202569294del , CM000664.1:g.202569294del | GRCh37 |
| NC_000002.10:g.202277539del | NCBI36 |
| NG_008775.1:g.81602del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264276.11:c.4721del MANE Select | ENSP00000264276.6:p.Val1574AlafsTer? | |
| ENST00000439495.6:c.*901del | ENSP00000403832.2:n.*901del | |
| ENST00000679409.1:c.*1191del | ENSP00000506531.1:n.*1191del | |
| ENST00000679416.1:n.6225del | ||
| ENST00000679427.1:n.2157del | ||
| ENST00000679435.1:c.4721del | ENSP00000505218.1:p.Val1574AlafsTer? | |
| ENST00000679516.1:c.4721del | ENSP00000505187.1:p.Val1574AlafsTer? | |
| ENST00000679618.1:c.*1809del | ENSP00000506274.1:n.*1809del | |
| ENST00000679630.1:n.6570del | ||
| ENST00000679635.1:n.2748del | ||
| ENST00000679686.1:n.4835del | ||
| ENST00000679701.1:n.7713del | ||
| ENST00000679916.1:c.*1069del | ENSP00000506172.1:n.*1069del | |
| ENST00000680000.1:c.4721del | ENSP00000506173.1:p.Val1574AlafsTer? | |
| ENST00000680135.1:c.*2682del | ENSP00000506211.1:n.*2682del | |
| ENST00000680149.1:c.*3del | ENSP00000506497.1:n.*3del | |
| ENST00000680163.1:c.4721del | ENSP00000505092.1:p.Val1574AlafsTer? | |
| ENST00000680174.1:n.5412del | ||
| ENST00000680236.1:c.*1782del | ENSP00000506212.1:n.*1782del | |
| ENST00000680404.1:n.236del | ||
| ENST00000680441.1:n.3279del | ||
| ENST00000680497.1:c.4823del | ENSP00000505954.1:p.Val1608AlafsTer? | |
| ENST00000680508.1:c.4718del | ENSP00000505749.1:p.Val1573AlafsTer? | |
| ENST00000680569.1:c.*2429del | ENSP00000505522.1:n.*2429del | |
| ENST00000680634.1:n.1229del | ||
| ENST00000680722.1:n.2521del | ||
| ENST00000680726.1:c.*3del | ENSP00000505505.1:n.*3del | |
| ENST00000680759.1:c.4553del | ENSP00000505848.1:p.Val1518AlafsTer? | |
| ENST00000680814.1:c.4721del | ENSP00000505710.1:p.Val1574AlafsTer? | |
| ENST00000680828.1:c.*2415del | ENSP00000505249.1:n.*2415del | |
| ENST00000680861.1:c.4721del | ENSP00000505043.1:p.Val1574AlafsTer? | |
| ENST00000680927.1:c.*901del | ENSP00000505473.1:n.*901del | |
| ENST00000680939.1:n.6427del | ||
| ENST00000681250.1:c.*1438del | ENSP00000505684.1:n.*1438del | |
| ENST00000681256.1:c.*2736del | ENSP00000505446.1:n.*2736del | |
| ENST00000681279.1:n.5587del | ||
| ENST00000681307.1:n.5834del | ||
| ENST00000681461.1:n.5489del | ||
| ENST00000681495.1:c.2258del | ENSP00000506085.1:p.Val753AlafsTer? | |
| ENST00000681558.1:c.2399del | ENSP00000505568.1:p.Val800AlafsTer? | |
| ENST00000681619.1:c.4718del | ENSP00000505071.1:p.Val1573AlafsTer? | |
| ENST00000681663.1:n.1627del | ||
| ENST00000681692.1:n.2681del | ||
| ENST00000681716.1:c.*2575del | ENSP00000505078.1:n.*2575del | |
| ENST00000681768.1:c.*2385del | ENSP00000506311.1:n.*2385del | |
| ENST00000681808.1:c.4544del | ENSP00000505219.1:p.Val1515AlafsTer? | |
| ENST00000264276.10:c.4721del | ENSP00000264276.6:p.Val1574AlafsTer? | |
| ENST00000439495.5:c.2825del | ||
| NM_020919.3:c.4721del | NP_065970.2:p.Val1574AlafsTer? | |
| XM_005246709.2:c.4718del | XP_005246766.1:p.Val1573AlafsTer? | |
| XM_006712654.1:c.4721del | XP_006712717.1:p.Val1574AlafsTer? | |
| XM_006712655.2:c.2657del | XP_006712718.1:p.Val886AlafsTer? | |
| XM_011511530.1:c.4382del | XP_011509832.1:p.Val1461AlafsTer? | |
| XR_922974.1:n.4999del | ||
| XM_006712654.3:c.4721del | XP_006712717.1:p.Val1574AlafsTer? | |
| XM_006712655.3:c.2657del | XP_006712718.1:p.Val886AlafsTer? | |
| XM_017004569.2:c.4718del | XP_016860058.1:p.Val1573AlafsTer? | |
| XM_017004572.2:c.2339del | XP_016860061.1:p.Val780AlafsTer? | |
| XM_024453024.1:c.4382del | XP_024308792.1:p.Val1461AlafsTer? | |
| XM_024453025.1:c.2654del | XP_024308793.1:p.Val885AlafsTer? | |
| XR_001738864.2:n.4836del | ||
| XR_001738865.2:n.4833del | ||
| XR_001738866.2:n.4999del | ||
| XR_001738867.2:n.4996del | ||
| XR_002959320.1:n.3892del | ||
| NM_020919.4:c.4721del MANE Select | NP_065970.2:p.Val1574AlafsTer? |