Linked Data
ClinVar Variation Id:
185833
dbSNP Id:
rs786202490
gnomAD v2:
8-90982678-AAC-A
gnomAD v3:
8-89970450-AAC-A
gnomAD v4:
8-89970450-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89970455_89970456del , CM000670.2:g.89970455_89970456del | GRCh38 |
| NC_000008.10:g.90982683_90982684del , CM000670.1:g.90982683_90982684del | GRCh37 |
| NC_000008.9:g.91051859_91051860del | NCBI36 |
| NG_008860.1:g.19220_19221del , LRG_158:g.19220_19221del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.2110_2111del | ||
| ENST00000517337.2:c.562_563del | ENSP00000429971.2:p.Val188CysfsTer2 | |
| ENST00000523444.2:c.562_563del | ENSP00000428252.2:p.Val188CysfsTer2 | |
| ENST00000697292.1:c.808_809del | ENSP00000513229.1:p.Val270CysfsTer2 | |
| ENST00000697293.1:c.808_809del | ENSP00000513230.1:p.Val270CysfsTer2 | |
| ENST00000697294.1:c.*419_*420del | ENSP00000513231.1:n.*419_*420del | |
| ENST00000697295.1:c.*117_*118del | ENSP00000513232.1:n.*117_*118del | |
| ENST00000697296.1:c.*476_*477del | ENSP00000513233.1:n.*476_*477del | |
| ENST00000697297.1:n.2593_2594del | ||
| ENST00000697298.1:c.562_563del | ENSP00000513234.1:p.Val188CysfsTer2 | |
| ENST00000697299.1:c.562_563del | ENSP00000513235.1:p.Val188CysfsTer2 | |
| ENST00000697300.1:c.*412_*413del | ENSP00000513236.1:n.*412_*413del | |
| ENST00000697301.1:c.*329_*330del | ENSP00000513237.1:n.*329_*330del | |
| ENST00000697302.1:c.*329_*330del | ENSP00000513238.1:n.*329_*330del | |
| ENST00000697303.1:c.*412_*413del | ENSP00000513239.1:n.*412_*413del | |
| ENST00000697304.1:c.585-5945_585-5944del | ENSP00000513240.1:n.585-5945_585-5944del | |
| ENST00000697306.1:c.480+10282_480+10283del | ENSP00000513241.1:n.480+10282_480+10283de... | |
| ENST00000697307.1:c.808_809del | ENSP00000513242.1:p.Val270CysfsTer2 | |
| ENST00000697308.1:c.808_809del | ENSP00000513243.1:p.Val270CysfsTer2 | |
| ENST00000697309.1:c.808_809del | ENSP00000513244.1:p.Val270CysfsTer2 | |
| ENST00000697310.1:c.808_809del | ENSP00000513245.1:p.Val270CysfsTer2 | |
| ENST00000697311.1:c.808_809del | ENSP00000513246.1:p.Val270CysfsTer2 | |
| ENST00000697312.1:c.*206_*207del | ENSP00000513247.1:n.*206_*207del | |
| ENST00000697313.1:n.2599_2600del | ||
| ENST00000697314.1:n.2599_2600del | ||
| ENST00000697315.1:c.808_809del | ENSP00000513248.1:p.Val270CysfsTer2 | |
| ENST00000697316.1:n.929_930del | ||
| ENST00000697317.1:n.918_919del | ||
| ENST00000697318.1:n.920_921del | ||
| ENST00000265433.8:c.808_809del MANE Select | ENSP00000265433.4:p.Val270CysfsTer2 | |
| ENST00000265433.7:c.808_809del | ENSP00000265433.3:p.Val270CysfsTer2 | |
| ENST00000396252.6:c.*681_*682del | ENSP00000379551.2:n.*681_*682del | |
| ENST00000409330.5:c.562_563del | ENSP00000386924.1:p.Val188CysfsTer2 | |
| NM_001024688.2:c.562_563del | NP_001019859.1:p.Val188CysfsTer2 | |
| NM_002485.4:c.808_809del , LRG_158t1:c.808_809del | NP_002476.2:p.Val270CysfsTer2 | |
| XM_011517044.1:c.784_785del | XP_011515346.1:p.Val262CysfsTer2 | |
| XM_011517045.1:c.562_563del | XP_011515347.1:p.Val188CysfsTer2 | |
| XM_011517046.1:c.808_809del | XP_011515348.1:p.Val270CysfsTer2 | |
| XR_928335.1:n.945_946del | ||
| XM_017013460.1:c.-72_-71del | XP_016868949.1:n.-72_-71del | |
| XM_017013462.2:c.-72_-71del | XP_016868951.1:n.-72_-71del | |
| XM_024447163.1:c.562_563del | XP_024302931.1:p.Val188CysfsTer2 | |
| XM_024447164.1:c.562_563del | XP_024302932.1:p.Val188CysfsTer2 | |
| XM_024447165.1:c.-72_-71del | XP_024302933.1:n.-72_-71del | |
| NM_002485.5:c.808_809del MANE Select | NP_002476.2:p.Val270CysfsTer2 | |
| NM_001024688.3:c.562_563del | NP_001019859.1:p.Val188CysfsTer2 |