Linked Data
dbSNP Id:
rs1558641061
gnomAD v2:
2-60720252-AGCAGAATGATTCTGGGATTCATCCATGGTGTGGAGTGTGTTACTCTTTCATTCTTCTACTGTTGAGTTGTATTCCACCATAGG-A
gnomAD v3:
2-60493117-AGCAGAATGATTCTGGGATTCATCCATGGTGTGGAGTGTGTTACTCTTTCATTCTTCTACTGTTGAGTTGTATTCCACCATAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60493120_60493202del , CM000664.2:g.60493120_60493202del | GRCh38 |
| NC_000002.11:g.60720255_60720337del , CM000664.1:g.60720255_60720337del | GRCh37 |
| NC_000002.10:g.60573759_60573841del | NCBI36 |
| NG_011968.1:g.65299_65381del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335712.11:c.386-30776_386-30694del | ENSP00000338774.7:n.386-30776_386-30694de... | |
| ENST00000356842.9:c.386-24367_386-24285del | ENSP00000349300.4:n.386-24367_386-24285de... | |
| ENST00000358510.6:c.386-30776_386-30694del | ENSP00000351307.5:n.386-30776_386-30694de... | |
| ENST00000359629.10:c.386-24367_386-24285del | ENSP00000352648.5:n.386-24367_386-24285de... | |
| ENST00000489516.7:c.380-24367_380-24285del | ENSP00000488390.2:n.380-24367_380-24285de... | |
| ENST00000492272.6:n.228-24367_228-24285del | ||
| ENST00000642384.2:c.386-24367_386-24285del MANE Select | ENSP00000496168.1:n.386-24367_386-24285de... | |
| ENST00000642439.1:c.386-30776_386-30694del | ENSP00000493484.1:n.386-30776_386-30694de... | |
| ENST00000643222.1:c.371-30776_371-30694del | ENSP00000495862.1:n.371-30776_371-30694de... | |
| ENST00000643459.1:c.371-24367_371-24285del | ENSP00000494996.1:n.371-24367_371-24285de... | |
| ENST00000644606.1:n.425-24367_425-24285del | ||
| ENST00000645455.1:n.202-24367_202-24285del | ||
| ENST00000646249.1:c.386-30776_386-30694del | ENSP00000495759.1:n.386-30776_386-30694de... | |
| ENST00000647472.1:c.232-14961_232-14879del | ||
| ENST00000335712.10:c.386-24367_386-24285del | ENSP00000338774.6:n.386-24367_386-24285de... | |
| ENST00000356842.8:c.386-24367_386-24285del | ENSP00000349300.4:n.386-24367_386-24285de... | |
| ENST00000358510.5:c.386-30776_386-30694del | ENSP00000351307.4:n.386-30776_386-30694de... | |
| ENST00000359629.9:c.386-24367_386-24285del | ENSP00000352648.5:n.386-24367_386-24285de... | |
| ENST00000477659.1:n.69-24367_69-24285del | ||
| ENST00000489516.6:c.230-24367_230-24285del | ENSP00000488390.1:n.230-24367_230-24285de... | |
| ENST00000492272.5:n.228-24367_228-24285del | ||
| ENST00000631857.1:c.*100+15406_*100+15488del | ENSP00000488886.1:n.*100+15406_*100+15488... | |
| NM_018014.3:c.386-24367_386-24285del | NP_060484.2:n.386-24367_386-24285del | |
| NM_022893.3:c.386-24367_386-24285del | NP_075044.2:n.386-24367_386-24285del | |
| NM_138559.1:c.386-24367_386-24285del | NP_612569.1:n.386-24367_386-24285del | |
| XM_011532909.1:c.386-24367_386-24285del | XP_011531211.1:n.386-24367_386-24285del | |
| XM_011532910.1:c.386-24367_386-24285del | XP_011531212.1:n.386-24367_386-24285del | |
| XM_011532911.1:c.386-30776_386-30694del | XP_011531213.1:n.386-30776_386-30694del | |
| XM_011532912.1:c.386-30776_386-30694del | XP_011531214.1:n.386-30776_386-30694del | |
| XM_011532913.1:c.380-24367_380-24285del | XP_011531215.1:n.380-24367_380-24285del | |
| XM_011532914.1:c.380-30776_380-30694del | XP_011531216.1:n.380-30776_380-30694del | |
| XM_011532915.1:c.52+23227_52+23309del | XP_011531217.1:n.52+23227_52+23309del | |
| NM_001363864.1:c.386-30776_386-30694del | NP_001350793.1:n.386-30776_386-30694del | |
| NM_001365609.1:c.386-30776_386-30694del | NP_001352538.1:n.386-30776_386-30694del | |
| XM_017004333.1:c.380-24367_380-24285del | XP_016859822.1:n.380-24367_380-24285del | |
| XM_017004335.1:c.380-30776_380-30694del | XP_016859824.1:n.380-30776_380-30694del | |
| XM_017004336.1:c.52+23227_52+23309del | XP_016859825.1:n.52+23227_52+23309del | |
| XM_024452962.1:c.230-24367_230-24285del | XP_024308730.1:n.230-24367_230-24285del | |
| XM_024452963.1:c.230-24367_230-24285del | XP_024308731.1:n.230-24367_230-24285del | |
| NM_018014.4:c.386-24367_386-24285del | NP_060484.2:n.386-24367_386-24285del | |
| NM_022893.4:c.386-24367_386-24285del MANE Select | NP_075044.2:n.386-24367_386-24285del | |
| NM_138559.2:c.386-24367_386-24285del | NP_612569.1:n.386-24367_386-24285del |