Linked Data
ClinVar Variation Id:
2440730
ClinVar RCV Id:
RCV003146031
dbSNP Id:
rs1860621399
gnomAD v3:
11-686971-CCT-C
gnomAD v4:
11-686971-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.686972_686973del , CM000673.2:g.686972_686973del | GRCh38 |
| NC_000011.9:g.686972_686973del , CM000673.1:g.686972_686973del | GRCh37 |
| NC_000011.8:g.676972_676973del | NCBI36 |
| NG_034156.1:g.13782_13783del | |
| NG_034156.2:g.25111_25112del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525626.6:n.574_575del | ||
| ENST00000528864.6:n.575_576del | ||
| ENST00000529717.6:c.*394_*395del | ENSP00000432518.2:n.*394_*395del | |
| ENST00000530813.2:c.*312_*313del | ENSP00000508507.1:n.*312_*313del | |
| ENST00000682936.1:n.449_450del | ||
| ENST00000683307.1:c.-38_-37del | ENSP00000507198.1:n.-38_-37del | |
| ENST00000684249.1:n.877_878del | ||
| ENST00000685854.1:c.485_486del | ENSP00000508801.1:p.Gln162ArgfsTer11 | |
| ENST00000686001.1:c.485_486del | ENSP00000508459.1:p.Gln162ArgfsTer11 | |
| ENST00000687329.1:c.485_486del | ENSP00000510598.1:p.Gln162ArgfsTer11 | |
| ENST00000689835.1:c.485_486del | ENSP00000510621.1:p.Gln162ArgfsTer11 | |
| ENST00000690068.1:c.485_486del | ENSP00000509089.1:p.Gln162ArgfsTer11 | |
| ENST00000692634.1:c.485_486del | ENSP00000508859.1:p.Gln162ArgfsTer11 | |
| ENST00000693164.1:n.683_684del | ||
| ENST00000382409.4:c.689_690del MANE Select | ENSP00000371846.3:p.Gln230ArgfsTer11 | |
| ENST00000382409.3:c.689_690del | ENSP00000371846.3:p.Gln230ArgfsTer11 | |
| ENST00000525626.5:n.544_545del | ||
| ENST00000527170.5:c.51_52del | ||
| ENST00000528864.5:n.556_557del | ||
| ENST00000529717.5:c.653_654del | ||
| NM_001293634.1:c.664+938_664+939del | NP_001280563.1:n.664+938_664+939del | |
| NM_021008.3:c.689_690del | NP_066288.2:p.Gln230ArgfsTer11 | |
| XM_011519842.1:c.689_690del | XP_011518144.1:p.Gln230ArgfsTer11 | |
| XM_011519843.1:c.689_690del | XP_011518145.1:p.Gln230ArgfsTer11 | |
| XR_428838.2:n.695_696del | ||
| XR_930843.1:n.695_696del | ||
| XM_011519842.3:c.689_690del | XP_011518144.1:p.Gln230ArgfsTer11 | |
| XM_024448325.1:c.689_690del | XP_024304093.1:p.Gln230ArgfsTer11 | |
| XM_024448326.1:c.689_690del | XP_024304094.1:p.Gln230ArgfsTer11 | |
| XM_024448327.1:c.689_690del | XP_024304095.1:p.Gln230ArgfsTer11 | |
| NM_001367390.1:c.-38_-37del | NP_001354319.1:n.-38_-37del | |
| NM_021008.4:c.689_690del MANE Select | NP_066288.2:p.Gln230ArgfsTer11 |