Linked Data
ClinVar Variation Id:
333591
dbSNP Id:
rs370628135
ExAC:
2:202587857 CAA / C
gnomAD v2:
2-202587857-CAA-C
gnomAD v3:
2-201723134-CAA-C
gnomAD v4:
2-201723134-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201723135_201723136del , CM000664.2:g.201723135_201723136del | GRCh38 |
| NC_000002.11:g.202587858_202587859del , CM000664.1:g.202587858_202587859del | GRCh37 |
| NC_000002.10:g.202296103_202296104del | NCBI36 |
| NG_008775.1:g.63037_63038del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.3625-16_3625-15del MANE Select | ENSP00000264276.6:n.3625-16_3625-15del | |
| ENST00000439495.6:c.1303-16_1303-15del | ENSP00000403832.2:n.1303-16_1303-15del | |
| ENST00000482891.6:n.4393-16_4393-15del | ||
| ENST00000494017.6:n.1357-16_1357-15del | ||
| ENST00000679409.1:c.1303-16_1303-15del | ENSP00000506531.1:n.1303-16_1303-15del | |
| ENST00000679416.1:n.5129-16_5129-15del | ||
| ENST00000679435.1:c.3625-16_3625-15del | ENSP00000505218.1:n.3625-16_3625-15del | |
| ENST00000679516.1:c.3625-16_3625-15del | ENSP00000505187.1:n.3625-16_3625-15del | |
| ENST00000679618.1:c.*713-16_*713-15del | ENSP00000506274.1:n.*713-16_*713-15del | |
| ENST00000679630.1:n.5474-16_5474-15del | ||
| ENST00000679686.1:n.3739-16_3739-15del | ||
| ENST00000679701.1:n.6617-16_6617-15del | ||
| ENST00000679916.1:c.3625-16_3625-15del | ENSP00000506172.1:n.3625-16_3625-15del | |
| ENST00000680000.1:c.3625-16_3625-15del | ENSP00000506173.1:n.3625-16_3625-15del | |
| ENST00000680135.1:c.*1589-16_*1589-15del | ENSP00000506211.1:n.*1589-16_*1589-15del | |
| ENST00000680149.1:c.3625-16_3625-15del | ENSP00000506497.1:n.3625-16_3625-15del | |
| ENST00000680163.1:c.3625-16_3625-15del | ENSP00000505092.1:n.3625-16_3625-15del | |
| ENST00000680174.1:n.4316-16_4316-15del | ||
| ENST00000680236.1:c.*686-16_*686-15del | ENSP00000506212.1:n.*686-16_*686-15del | |
| ENST00000680497.1:c.3727-16_3727-15del | ENSP00000505954.1:n.3727-16_3727-15del | |
| ENST00000680508.1:c.3625-16_3625-15del | ENSP00000505749.1:n.3625-16_3625-15del | |
| ENST00000680569.1:c.*1336-16_*1336-15del | ENSP00000505522.1:n.*1336-16_*1336-15del | |
| ENST00000680630.1:n.4057-16_4057-15del | ||
| ENST00000680634.1:n.21-2647_21-2646del | ||
| ENST00000680722.1:n.1425-16_1425-15del | ||
| ENST00000680723.1:n.4408-16_4408-15del | ||
| ENST00000680726.1:c.3625-16_3625-15del | ENSP00000505505.1:n.3625-16_3625-15del | |
| ENST00000680737.1:n.3896-16_3896-15del | ||
| ENST00000680759.1:c.3625-16_3625-15del | ENSP00000505848.1:n.3625-16_3625-15del | |
| ENST00000680814.1:c.3625-16_3625-15del | ENSP00000505710.1:n.3625-16_3625-15del | |
| ENST00000680828.1:c.*1197-16_*1197-15del | ENSP00000505249.1:n.*1197-16_*1197-15del | |
| ENST00000680861.1:c.3625-16_3625-15del | ENSP00000505043.1:n.3625-16_3625-15del | |
| ENST00000680927.1:c.3625-16_3625-15del | ENSP00000505473.1:n.3625-16_3625-15del | |
| ENST00000680939.1:n.3967-16_3967-15del | ||
| ENST00000681152.1:c.3625-16_3625-15del | ENSP00000505388.1:n.3625-16_3625-15del | |
| ENST00000681250.1:c.*342-16_*342-15del | ENSP00000505684.1:n.*342-16_*342-15del | |
| ENST00000681256.1:c.*1643-16_*1643-15del | ENSP00000505446.1:n.*1643-16_*1643-15del | |
| ENST00000681279.1:n.4393-16_4393-15del | ||
| ENST00000681303.1:c.3625-16_3625-15del | ENSP00000505576.1:n.3625-16_3625-15del | |
| ENST00000681307.1:n.4738-16_4738-15del | ||
| ENST00000681461.1:n.4393-16_4393-15del | ||
| ENST00000681495.1:c.1165-16_1165-15del | ENSP00000506085.1:n.1165-16_1165-15del | |
| ENST00000681558.1:c.1303-16_1303-15del | ENSP00000505568.1:n.1303-16_1303-15del | |
| ENST00000681619.1:c.3625-16_3625-15del | ENSP00000505071.1:n.3625-16_3625-15del | |
| ENST00000681716.1:c.*1336-16_*1336-15del | ENSP00000505078.1:n.*1336-16_*1336-15del | |
| ENST00000681758.1:n.3967-16_3967-15del | ||
| ENST00000681768.1:c.*1289-16_*1289-15del | ENSP00000506311.1:n.*1289-16_*1289-15del | |
| ENST00000681808.1:c.3625-16_3625-15del | ENSP00000505219.1:n.3625-16_3625-15del | |
| ENST00000264276.10:c.3625-16_3625-15del | ENSP00000264276.6:n.3625-16_3625-15del | |
| ENST00000439495.5:c.1586-16_1586-15del | ||
| ENST00000482891.5:n.3765-16_3765-15del | ||
| ENST00000489440.5:n.446-16_446-15del | ||
| NM_020919.3:c.3625-16_3625-15del | NP_065970.2:n.3625-16_3625-15del | |
| XM_005246709.2:c.3625-16_3625-15del | XP_005246766.1:n.3625-16_3625-15del | |
| XM_006712654.1:c.3625-16_3625-15del | XP_006712717.1:n.3625-16_3625-15del | |
| XM_006712655.2:c.1561-16_1561-15del | XP_006712718.1:n.1561-16_1561-15del | |
| XM_011511530.1:c.3286-16_3286-15del | XP_011509832.1:n.3286-16_3286-15del | |
| XM_011511531.1:c.3625-16_3625-15del | XP_011509833.1:n.3625-16_3625-15del | |
| XR_922974.1:n.3760-16_3760-15del | ||
| XM_006712654.3:c.3625-16_3625-15del | XP_006712717.1:n.3625-16_3625-15del | |
| XM_006712655.3:c.1561-16_1561-15del | XP_006712718.1:n.1561-16_1561-15del | |
| XM_017004569.2:c.3625-16_3625-15del | XP_016860058.1:n.3625-16_3625-15del | |
| XM_017004570.2:c.3625-16_3625-15del | XP_016860059.1:n.3625-16_3625-15del | |
| XM_017004572.2:c.1243-16_1243-15del | XP_016860061.1:n.1243-16_1243-15del | |
| XM_024453024.1:c.3286-16_3286-15del | XP_024308792.1:n.3286-16_3286-15del | |
| XM_024453025.1:c.1561-16_1561-15del | XP_024308793.1:n.1561-16_1561-15del | |
| XR_001738864.2:n.3760-16_3760-15del | ||
| XR_001738865.2:n.3760-16_3760-15del | ||
| XR_001738866.2:n.3760-16_3760-15del | ||
| XR_001738867.2:n.3760-16_3760-15del | ||
| XR_002959320.1:n.2816-16_2816-15del | ||
| NM_020919.4:c.3625-16_3625-15del MANE Select | NP_065970.2:n.3625-16_3625-15del |