Linked Data
dbSNP Id:
rs1418662664
gnomAD v3:
11-108412465-C-CTA
gnomAD v4:
11-108412465-C-CTA
MyVariant Identifiers:
chr11:g.108283192_108283193insTA (hg19)
chr11:g.108412465_108412466insTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108412469_108412470dup , CM000673.2:g.108412469_108412470dup | GRCh38 |
| NC_000011.9:g.108283196_108283197dup , CM000673.1:g.108283196_108283197dup | GRCh37 |
| NC_000011.8:g.107788406_107788407dup | NCBI36 |
| NG_054724.1:g.62366_62367dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393084.6:c.175-5318_175-5317dup MANE Select | ENSP00000376799.1:n.175-5318_175-5317dup | |
| ENST00000393084.5:c.175-5318_175-5317dup | ENSP00000376799.1:n.175-5318_175-5317dup | |
| ENST00000525729.5:c.82-5504_82-5503dup | ENSP00000433395.1:n.82-5504_82-5503dup | |
| ENST00000527531.5:c.175-5318_175-5317dup | ENSP00000431706.1:n.175-5318_175-5317dup | |
| ENST00000529391.5:c.175-5318_175-5317dup | ENSP00000436400.1:n.175-5318_175-5317dup | |
| ENST00000533583.1:c.175-5504_175-5503dup | ENSP00000434500.1:n.175-5504_175-5503dup | |
| ENST00000615746.4:c.175-5318_175-5317dup | ENSP00000483537.1:n.175-5318_175-5317dup | |
| NM_152587.3:c.175-5318_175-5317dup | NP_689800.3:n.175-5318_175-5317dup | |
| XM_005271412.2:c.175-5504_175-5503dup | XP_005271469.1:n.175-5504_175-5503dup | |
| XM_005271413.2:c.82-5318_82-5317dup | XP_005271470.1:n.82-5318_82-5317dup | |
| XM_005271414.3:c.175-5318_175-5317dup | XP_005271471.1:n.175-5318_175-5317dup | |
| XM_005271415.3:c.175-5318_175-5317dup | XP_005271472.1:n.175-5318_175-5317dup | |
| XM_011542639.1:c.175-5318_175-5317dup | XP_011540941.1:n.175-5318_175-5317dup | |
| XM_011542640.1:c.175-5318_175-5317dup | XP_011540942.1:n.175-5318_175-5317dup | |
| XM_011542641.1:c.82-5504_82-5503dup | XP_011540943.1:n.82-5504_82-5503dup | |
| XM_011542642.1:c.175-5318_175-5317dup | XP_011540944.1:n.175-5318_175-5317dup | |
| XM_011542643.1:c.175-5318_175-5317dup | XP_011540945.1:n.175-5318_175-5317dup | |
| NM_001330368.1:c.82-5504_82-5503dup | NP_001317297.1:n.82-5504_82-5503dup | |
| NM_001351110.1:c.82-5318_82-5317dup | NP_001338039.1:n.82-5318_82-5317dup | |
| NM_152587.4:c.175-5318_175-5317dup | NP_689800.3:n.175-5318_175-5317dup | |
| NR_147053.2:n.338-5318_338-5317dup | ||
| XM_005271412.3:c.175-5504_175-5503dup | XP_005271469.1:n.175-5504_175-5503dup | |
| XM_005271413.3:c.82-5318_82-5317dup | XP_005271470.1:n.82-5318_82-5317dup | |
| XM_005271414.4:c.175-5318_175-5317dup | XP_005271471.1:n.175-5318_175-5317dup | |
| XM_005271415.4:c.175-5318_175-5317dup | XP_005271472.1:n.175-5318_175-5317dup | |
| XM_011542639.2:c.175-5318_175-5317dup | XP_011540941.1:n.175-5318_175-5317dup | |
| XM_011542640.2:c.175-5318_175-5317dup | XP_011540942.1:n.175-5318_175-5317dup | |
| XM_011542641.2:c.82-5504_82-5503dup | XP_011540943.1:n.82-5504_82-5503dup | |
| XM_011542643.2:c.175-5318_175-5317dup | XP_011540945.1:n.175-5318_175-5317dup | |
| XM_017017246.1:c.175-5318_175-5317dup | XP_016872735.1:n.175-5318_175-5317dup | |
| XM_017017247.1:c.175-5318_175-5317dup | XP_016872736.1:n.175-5318_175-5317dup | |
| XM_017017248.1:c.175-5318_175-5317dup | XP_016872737.1:n.175-5318_175-5317dup | |
| NM_152587.5:c.175-5318_175-5317dup MANE Select | NP_689800.3:n.175-5318_175-5317dup | |
| NM_001330368.2:c.82-5504_82-5503dup | NP_001317297.1:n.82-5504_82-5503dup | |
| NM_001351110.2:c.82-5318_82-5317dup | NP_001338039.1:n.82-5318_82-5317dup | |
| NR_147053.3:n.336-5318_336-5317dup |