Linked Data
dbSNP Id:
rs1811493167
gnomAD v3:
8-89971106-AAGAGTTAATAATGT-A
gnomAD v4:
8-89971106-AAGAGTTAATAATGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89971108_89971121del , CM000670.2:g.89971108_89971121del | GRCh38 |
| NC_000008.10:g.90983336_90983349del , CM000670.1:g.90983336_90983349del | GRCh37 |
| NC_000008.9:g.91052512_91052525del | NCBI36 |
| NG_008860.1:g.18552_18565del , LRG_158:g.18552_18565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2004+53_2004+66del | ||
| ENST00000517337.2:c.456+53_456+66del | ENSP00000429971.2:n.456+53_456+66del | |
| ENST00000523444.2:c.456+53_456+66del | ENSP00000428252.2:n.456+53_456+66del | |
| ENST00000697292.1:c.702+53_702+66del | ENSP00000513229.1:n.702+53_702+66del | |
| ENST00000697293.1:c.702+53_702+66del | ENSP00000513230.1:n.702+53_702+66del | |
| ENST00000697294.1:c.*313+53_*313+66del | ENSP00000513231.1:n.*313+53_*313+66del | |
| ENST00000697295.1:c.*11+53_*11+66del | ENSP00000513232.1:n.*11+53_*11+66del | |
| ENST00000697296.1:c.*370+53_*370+66del | ENSP00000513233.1:n.*370+53_*370+66del | |
| ENST00000697297.1:n.2487+53_2487+66del | ||
| ENST00000697298.1:c.456+53_456+66del | ENSP00000513234.1:n.456+53_456+66del | |
| ENST00000697299.1:c.456+53_456+66del | ENSP00000513235.1:n.456+53_456+66del | |
| ENST00000697300.1:c.*306+53_*306+66del | ENSP00000513236.1:n.*306+53_*306+66del | |
| ENST00000697301.1:c.*223+53_*223+66del | ENSP00000513237.1:n.*223+53_*223+66del | |
| ENST00000697302.1:c.*223+53_*223+66del | ENSP00000513238.1:n.*223+53_*223+66del | |
| ENST00000697303.1:c.*306+53_*306+66del | ENSP00000513239.1:n.*306+53_*306+66del | |
| ENST00000697304.1:c.585-6613_585-6600del | ENSP00000513240.1:n.585-6613_585-6600del | |
| ENST00000697306.1:c.480+9614_480+9627del | ENSP00000513241.1:n.480+9614_480+9627del | |
| ENST00000697307.1:c.702+53_702+66del | ENSP00000513242.1:n.702+53_702+66del | |
| ENST00000697308.1:c.702+53_702+66del | ENSP00000513243.1:n.702+53_702+66del | |
| ENST00000697309.1:c.702+53_702+66del | ENSP00000513244.1:n.702+53_702+66del | |
| ENST00000697310.1:c.702+53_702+66del | ENSP00000513245.1:n.702+53_702+66del | |
| ENST00000697311.1:c.702+53_702+66del | ENSP00000513246.1:n.702+53_702+66del | |
| ENST00000697312.1:c.*100+53_*100+66del | ENSP00000513247.1:n.*100+53_*100+66del | |
| ENST00000697313.1:n.2493+53_2493+66del | ||
| ENST00000697314.1:n.2493+53_2493+66del | ||
| ENST00000697315.1:c.702+53_702+66del | ENSP00000513248.1:n.702+53_702+66del | |
| ENST00000697316.1:n.823+53_823+66del | ||
| ENST00000697317.1:n.812+53_812+66del | ||
| ENST00000697318.1:n.814+53_814+66del | ||
| ENST00000265433.8:c.702+53_702+66del MANE Select | ENSP00000265433.4:n.702+53_702+66del | |
| ENST00000265433.7:c.702+53_702+66del | ENSP00000265433.3:n.702+53_702+66del | |
| ENST00000396252.6:c.*575+53_*575+66del | ENSP00000379551.2:n.*575+53_*575+66del | |
| ENST00000409330.5:c.456+53_456+66del | ENSP00000386924.1:n.456+53_456+66del | |
| ENST00000517772.5:c.456+53_456+66del | ENSP00000428717.1:n.456+53_456+66del | |
| ENST00000519426.5:c.438+53_438+66del | ENSP00000430983.1:n.438+53_438+66del | |
| NM_001024688.2:c.456+53_456+66del | NP_001019859.1:n.456+53_456+66del | |
| NM_002485.4:c.702+53_702+66del , LRG_158t1:c.702+53_702+66del | NP_002476.2:n.702+53_702+66del | |
| XM_011517044.1:c.678+53_678+66del | XP_011515346.1:n.678+53_678+66del | |
| XM_011517045.1:c.456+53_456+66del | XP_011515347.1:n.456+53_456+66del | |
| XM_011517046.1:c.702+53_702+66del | XP_011515348.1:n.702+53_702+66del | |
| XR_928335.1:n.839+53_839+66del | ||
| XM_017013460.1:c.-178+53_-178+66del | XP_016868949.1:n.-178+53_-178+66del | |
| XM_017013462.2:c.-178+53_-178+66del | XP_016868951.1:n.-178+53_-178+66del | |
| XM_024447163.1:c.456+53_456+66del | XP_024302931.1:n.456+53_456+66del | |
| XM_024447164.1:c.456+53_456+66del | XP_024302932.1:n.456+53_456+66del | |
| XM_024447165.1:c.-178+53_-178+66del | XP_024302933.1:n.-178+53_-178+66del | |
| NM_002485.5:c.702+53_702+66del MANE Select | NP_002476.2:n.702+53_702+66del | |
| NM_001024688.3:c.456+53_456+66del | NP_001019859.1:n.456+53_456+66del |