Linked Data
ClinVar Variation Id:
404166
ClinVar RCV Id:
RCV003335325
dbSNP Id:
rs1060500124
COSMIC:
COSM5967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933253del , CM000672.2:g.87933253del | GRCh38 |
| NC_000010.10:g.89693010del , CM000672.1:g.89693010del | GRCh37 |
| NC_000010.9:g.89682990del | NCBI36 |
| NG_007466.2:g.74815del , LRG_311:g.74815del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.492+2del | ENSP00000514759.2:n.492+2del | |
| ENST00000710265.1:c.492+2del | ENSP00000518161.1:n.492+2del | |
| ENST00000472832.3:c.492+2del | ENSP00000483066.2:n.492+2del | |
| ENST00000688158.2:n.1227+2del | ||
| ENST00000688922.2:c.*322+2del | ENSP00000508742.2:n.*322+2del | |
| ENST00000700021.1:c.447+2del | ENSP00000514757.1:n.447+2del | |
| ENST00000700022.1:c.492+2del | ENSP00000514758.1:n.492+2del | |
| ENST00000700029.1:c.326+2del | ||
| ENST00000706954.1:c.492+2del | ENSP00000516674.1:n.492+2del | |
| ENST00000706955.1:c.*527+2del | ENSP00000516675.1:n.*527+2del | |
| ENST00000686459.1:c.492+2del | ENSP00000508909.1:n.492+2del | |
| ENST00000688158.1:c.*603+2del | ENSP00000509254.1:n.*603+2del | |
| ENST00000688308.1:c.492+2del | ENSP00000508752.1:n.492+2del | |
| ENST00000688922.1:c.413+2del | ||
| ENST00000693560.1:c.1011+2del | ENSP00000509861.1:n.1011+2del | |
| ENST00000371953.8:c.492+2del MANE Select | ENSP00000361021.3:n.492+2del | |
| ENST00000371953.7:c.492+2del | ENSP00000361021.3:n.492+2del | |
| ENST00000498703.1:n.320del | ||
| ENST00000610634.1:c.390+2del | ENSP00000477517.1:n.390+2del | |
| NM_000314.5:c.492+2del | NP_000305.3:n.492+2del | |
| NM_000314.6:c.492+2del | NP_000305.3:n.492+2del | |
| NM_001304717.2:c.1011+2del | NP_001291646.2:n.1011+2del | |
| NM_001304718.1:c.-259+2del | NP_001291647.1:n.-259+2del | |
| XM_006717926.2:c.447+2del | XP_006717989.1:n.447+2del | |
| XM_011539981.1:c.492+2del | XP_011538283.1:n.492+2del | |
| XM_011539982.1:c.396+2del | XP_011538284.1:n.396+2del | |
| XR_945789.1:n.1204+2del | ||
| XR_945790.1:n.1204+2del | ||
| XR_945791.1:n.1204+2del | ||
| NM_000314.7:c.492+2del | NP_000305.3:n.492+2del | |
| NM_001304717.5:c.1011+2del | NP_001291646.4:n.1011+2del | |
| NM_001304718.2:c.-259+2del | NP_001291647.1:n.-259+2del | |
| NM_000314.8:c.492+2del MANE Select | NP_000305.3:n.492+2del |