Linked Data
ClinVar Variation Id:
3006382
ClinVar RCV Id:
RCV003866533
dbSNP Id:
rs752946422
ExAC:
11:71146904 G / GGGGT
gnomAD v2:
11-71146904-G-GGGGT
gnomAD v3:
11-71435858-G-GGGGT
gnomAD v4:
11-71435858-G-GGGGT
MyVariant Identifiers:
chr11:g.71146904_71146905insGGGT (hg19)
chr11:g.71435858_71435859insGGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435859_71435862dup , CM000673.2:g.71435859_71435862dup | GRCh38 |
| NC_000011.9:g.71146905_71146908dup , CM000673.1:g.71146905_71146908dup | GRCh37 |
| NC_000011.8:g.70824553_70824556dup | NCBI36 |
| NG_012655.2:g.17570_17573dup , LRG_340:g.17570_17573dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.964-23_964-20dup | ENSP00000435707.3:n.964-23_964-20dup | |
| ENST00000526780.6:c.964-23_964-20dup | ENSP00000435668.2:n.964-23_964-20dup | |
| ENST00000527316.6:c.790-23_790-20dup | ENSP00000435047.2:n.790-23_790-20dup | |
| ENST00000682708.1:c.1015-23_1015-20dup | ENSP00000506866.1:n.1015-23_1015-20dup | |
| ENST00000683287.1:c.1000-23_1000-20dup | ENSP00000507607.1:n.1000-23_1000-20dup | |
| ENST00000683714.1:c.972-23_972-20dup | ENSP00000508207.1:n.972-23_972-20dup | |
| ENST00000684396.1:n.1004-23_1004-20dup | ||
| ENST00000685320.1:c.379-23_379-20dup | ENSP00000509319.1:n.379-23_379-20dup | |
| ENST00000690257.1:c.868-23_868-20dup | ENSP00000510750.1:n.868-23_868-20dup | |
| ENST00000355527.8:c.964-23_964-20dup MANE Select | ENSP00000347717.4:n.964-23_964-20dup | |
| ENST00000355527.7:c.964-23_964-20dup | ENSP00000347717.3:n.964-23_964-20dup | |
| ENST00000407721.6:c.964-23_964-20dup | ENSP00000384739.2:n.964-23_964-20dup | |
| ENST00000525137.1:c.442_445dup | ENSP00000435956.1:p.Pro149HisfsTer? | |
| ENST00000533800.5:c.214-23_214-20dup | ENSP00000435011.1:n.214-23_214-20dup | |
| ENST00000534795.5:c.319+1950_319+1953dup | ||
| NM_001163817.1:c.964-23_964-20dup | NP_001157289.1:n.964-23_964-20dup | |
| NM_001360.2:c.964-23_964-20dup , LRG_340t1:c.964-23_964-20dup | NP_001351.2:n.964-23_964-20dup | |
| XM_011544777.1:c.1075_1078dup | XP_011543079.1:p.Pro360HisfsTer? | |
| XM_011544777.2:c.1075_1078dup | XP_011543079.1:p.Pro360HisfsTer? | |
| NM_001163817.2:c.964-23_964-20dup | NP_001157289.1:n.964-23_964-20dup | |
| NM_001360.3:c.964-23_964-20dup MANE Select | NP_001351.2:n.964-23_964-20dup |