Linked Data
dbSNP Id:
rs3838796
gnomAD v2:
11-35299335-C-CT
gnomAD v3:
11-35277788-C-CT
gnomAD v4:
11-35277788-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35277788_35277789insT , CM000673.2:g.35277788_35277789insT | GRCh38 |
| NC_000011.9:g.35299335_35299336insT , CM000673.1:g.35299335_35299336insT | GRCh37 |
| NC_000011.8:g.35255911_35255912insT | NCBI36 |
| NG_008727.1:g.146770_146771insA | |
| NG_008727.2:g.146770_146771insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278379.9:c.1421+3078_1421+3079insA MANE Select | ENSP00000278379.3:n.1421+3078_1421+3079in... | |
| ENST00000395750.6:c.1409+3078_1409+3079insA | ENSP00000379099.2:n.1409+3078_1409+3079in... | |
| ENST00000395753.6:c.1394+3078_1394+3079insA | ENSP00000379102.1:n.1394+3078_1394+3079in... | |
| ENST00000479543.2:n.973+3078_973+3079insA | ||
| ENST00000531628.2:c.1421+3078_1421+3079insA | ENSP00000436029.2:n.1421+3078_1421+3079in... | |
| ENST00000606205.6:c.1286+8968_1286+8969insA | ENSP00000476124.2:n.1286+8968_1286+8969in... | |
| ENST00000642171.1:c.1421+3078_1421+3079insA | ENSP00000495538.1:n.1421+3078_1421+3079in... | |
| ENST00000642448.1:n.1513+3078_1513+3079insA | ||
| ENST00000642578.1:c.1394+3078_1394+3079insA | ENSP00000494076.1:n.1394+3078_1394+3079in... | |
| ENST00000642769.1:c.687+3078_687+3079insA | ||
| ENST00000643000.1:c.1394+3078_1394+3079insA | ENSP00000495164.1:n.1394+3078_1394+3079in... | |
| ENST00000643134.1:c.1421+3078_1421+3079insA | ENSP00000495188.1:n.1421+3078_1421+3079in... | |
| ENST00000643305.1:c.1421+3078_1421+3079insA | ENSP00000494828.1:n.1421+3078_1421+3079in... | |
| ENST00000643454.1:c.1412+3078_1412+3079insA | ENSP00000495126.1:n.1412+3078_1412+3079in... | |
| ENST00000643522.1:c.1187+3078_1187+3079insA | ENSP00000496375.1:n.1187+3078_1187+3079in... | |
| ENST00000644050.1:c.1394+3078_1394+3079insA | ENSP00000496123.1:n.1394+3078_1394+3079in... | |
| ENST00000644299.1:c.1394+3078_1394+3079insA | ENSP00000494669.1:n.1394+3078_1394+3079in... | |
| ENST00000644459.1:c.1421+3078_1421+3079insA | ENSP00000495861.1:n.1421+3078_1421+3079in... | |
| ENST00000644779.1:c.1532+3078_1532+3079insA | ENSP00000494258.1:n.1532+3078_1532+3079in... | |
| ENST00000644868.1:c.1412+3078_1412+3079insA | ENSP00000496760.1:n.1412+3078_1412+3079in... | |
| ENST00000645194.1:c.1394+3078_1394+3079insA | ENSP00000496093.1:n.1394+3078_1394+3079in... | |
| ENST00000645303.1:c.1436+3078_1436+3079insA | ENSP00000496667.1:n.1436+3078_1436+3079in... | |
| ENST00000645634.1:c.1394+3078_1394+3079insA | ENSP00000493945.1:n.1394+3078_1394+3079in... | |
| ENST00000646080.1:c.1412+3078_1412+3079insA | ENSP00000494113.1:n.1412+3078_1412+3079in... | |
| ENST00000646099.1:c.1409+3078_1409+3079insA | ENSP00000495799.1:n.1409+3078_1409+3079in... | |
| ENST00000646167.1:c.1037+3078_1037+3079insA | ENSP00000495246.1:n.1037+3078_1037+3079in... | |
| ENST00000647076.1:c.162+8968_162+8969insA | ||
| ENST00000647104.1:c.1394+3078_1394+3079insA | ENSP00000494025.1:n.1394+3078_1394+3079in... | |
| ENST00000647372.1:c.1394+3078_1394+3079insA | ENSP00000495277.1:n.1394+3078_1394+3079in... | |
| ENST00000278379.7:c.1421+3078_1421+3079insA | ENSP00000278379.3:n.1421+3078_1421+3079in... | |
| ENST00000395750.5:c.1394+3078_1394+3079insA | ENSP00000379099.1:n.1394+3078_1394+3079in... | |
| ENST00000395753.5:c.1394+3078_1394+3079insA | ENSP00000379102.1:n.1394+3078_1394+3079in... | |
| ENST00000479543.1:n.166+3078_166+3079insA | ||
| ENST00000531628.1:c.439+8968_439+8969insA | ||
| ENST00000606205.5:c.1421+3078_1421+3079insA | ENSP00000476124.1:n.1421+3078_1421+3079in... | |
| NM_001195728.2:c.1394+3078_1394+3079insA | NP_001182657.1:n.1394+3078_1394+3079insA | |
| NM_001252652.1:c.1394+3078_1394+3079insA | NP_001239581.1:n.1394+3078_1394+3079insA | |
| NM_004171.3:c.1421+3078_1421+3079insA | NP_004162.2:n.1421+3078_1421+3079insA | |
| XM_005253067.1:c.1412+3078_1412+3079insA | XP_005253124.1:n.1412+3078_1412+3079insA | |
| XM_011520284.1:c.1469+3078_1469+3079insA | XP_011518586.1:n.1469+3078_1469+3079insA | |
| XM_011520285.1:c.1409+3078_1409+3079insA | XP_011518587.1:n.1409+3078_1409+3079insA | |
| XM_011520286.1:c.1334+8968_1334+8969insA | XP_011518588.1:n.1334+8968_1334+8969insA | |
| XM_011520287.1:c.1235+3078_1235+3079insA | XP_011518589.1:n.1235+3078_1235+3079insA | |
| XM_011520285.2:c.1409+3078_1409+3079insA | XP_011518587.1:n.1409+3078_1409+3079insA | |
| XM_017018136.1:c.1436+3078_1436+3079insA | XP_016873625.1:n.1436+3078_1436+3079insA | |
| XM_017018137.1:c.1394+3078_1394+3079insA | XP_016873626.1:n.1394+3078_1394+3079insA | |
| XM_017018138.1:c.1394+3078_1394+3079insA | XP_016873627.1:n.1394+3078_1394+3079insA | |
| XM_017018139.1:c.1187+3078_1187+3079insA | XP_016873628.1:n.1187+3078_1187+3079insA | |
| NM_004171.4:c.1421+3078_1421+3079insA MANE Select | NP_004162.2:n.1421+3078_1421+3079insA | |
| NM_001195728.3:c.1394+3078_1394+3079insA | NP_001182657.1:n.1394+3078_1394+3079insA | |
| NM_001252652.2:c.1394+3078_1394+3079insA | NP_001239581.1:n.1394+3078_1394+3079insA |