Linked Data
ClinVar Variation Id:
2079074
ClinVar RCV Id:
RCV002982698
dbSNP Id:
rs758643820
ExAC:
11:6637521 GTCTAAGTT / G
gnomAD v2:
11-6637521-GTCTAAGTT-G
gnomAD v4:
11-6616290-GTCTAAGTT-G
MyVariant Identifiers:
chr11:g.6637522_6637529del (hg19)
chr11:g.6616292_6616299del (hg38)
chr11:g.6616291_6616298del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616292_6616299del , CM000673.2:g.6616292_6616299del | GRCh38 |
| NC_000011.9:g.6637523_6637530del , CM000673.1:g.6637523_6637530del | GRCh37 |
| NC_000011.8:g.6594099_6594106del | NCBI36 |
| NG_008653.1:g.8164_8171del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.961+17_961+24del | ENSP00000507321.1:n.961+17_961+24del | |
| ENST00000299427.12:c.1075+17_1075+24del MANE Select | ENSP00000299427.6:n.1075+17_1075+24del | |
| ENST00000436873.7:c.313-224_313-217del | ||
| ENST00000533371.6:c.346+17_346+24del | ENSP00000437066.1:n.346+17_346+24del | |
| ENST00000642892.1:c.346+17_346+24del | ENSP00000494165.1:n.346+17_346+24del | |
| ENST00000643342.1:c.165+17_165+24del | ||
| ENST00000643439.1:c.*815+17_*815+24del | ENSP00000495849.1:n.*815+17_*815+24del | |
| ENST00000643479.1:n.1261+17_1261+24del | ||
| ENST00000643516.1:c.584+17_584+24del | ||
| ENST00000644218.1:c.887-224_887-217del | ENSP00000493574.1:n.887-224_887-217del | |
| ENST00000644683.1:c.*528+17_*528+24del | ENSP00000494085.1:n.*528+17_*528+24del | |
| ENST00000644810.1:c.796+17_796+24del | ENSP00000495895.1:n.796+17_796+24del | |
| ENST00000644831.1:n.1251+17_1251+24del | ||
| ENST00000644933.1:c.346+17_346+24del | ENSP00000496133.1:n.346+17_346+24del | |
| ENST00000645285.1:c.158-224_158-217del | ENSP00000495058.1:n.158-224_158-217del | |
| ENST00000645331.1:n.1615_1622del | ||
| ENST00000645620.1:c.346+17_346+24del | ENSP00000493657.1:n.346+17_346+24del | |
| ENST00000646691.1:n.185_192del | ||
| ENST00000646777.1:n.1408+17_1408+24del | ||
| ENST00000647016.1:n.1555+17_1555+24del | ||
| ENST00000647152.1:c.346+17_346+24del | ENSP00000495893.1:n.346+17_346+24del | |
| ENST00000647209.1:c.*944+17_*944+24del | ENSP00000495558.1:n.*944+17_*944+24del | |
| ENST00000647346.1:n.2095+17_2095+24del | ||
| ENST00000299427.10:c.1075+17_1075+24del | ENSP00000299427.6:n.1075+17_1075+24del | |
| ENST00000533371.5:c.346+17_346+24del | ENSP00000437066.1:n.346+17_346+24del | |
| ENST00000611494.4:c.1075+17_1075+24del | ENSP00000484546.1:n.1075+17_1075+24del | |
| NM_000391.3:c.1075+17_1075+24del | NP_000382.3:n.1075+17_1075+24del | |
| NM_000391.4:c.1075+17_1075+24del MANE Select | NP_000382.3:n.1075+17_1075+24del |