Linked Data
dbSNP Id:
rs1555051043
ExAC:
11:71806088 G / GGCT
gnomAD v2:
11-71806088-G-GGCT
gnomAD v4:
11-72095042-G-GGCT
MyVariant Identifiers:
chr11:g.71806088_71806089insGCT (hg19)
chr11:g.72095042_72095043insGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72095043_72095045dup , CM000673.2:g.72095043_72095045dup | GRCh38 |
| NC_000011.9:g.71806089_71806091dup , CM000673.1:g.71806089_71806091dup | GRCh37 |
| NC_000011.8:g.71483737_71483739dup | NCBI36 |
| NG_021423.1:g.19708_19710dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289488.8:c.384_386dup (LRRC51) MANE Select | ENSP00000289488.2:p.Leu129_Arg130insLeu | |
| ENST00000289488.7:c.384_386dup (LRRC51) | ENSP00000289488.2:p.Leu129_Arg130insLeu | |
| ENST00000535883.6:c.*447_*449dup (LRRC51) | ENSP00000437561.1:n.*447_*449dup | |
| ENST00000536917.2:c.384_386dup (LRRC51) | ENSP00000443421.1:p.Leu129_Arg130insLeu | |
| ENST00000538413.6:c.384_386dup (LRRC51) | ENSP00000438762.2:p.Leu129_Arg130insLeu | |
| ENST00000539271.6:c.-31_-29dup (LRRC51) | ENSP00000442267.2:n.-31_-29dup | |
| ENST00000539587.6:c.-31_-29dup (LRRC51) | ENSP00000437649.2:n.-31_-29dup | |
| ENST00000642478.1:c.*447_*449dup (LRRC51) | ENSP00000495182.1:n.*447_*449dup | |
| ENST00000642510.1:c.-31_-29dup (LRRC51) | ENSP00000496544.1:n.-31_-29dup | |
| ENST00000642648.1:c.384_386dup (LRRC51) | ENSP00000494362.1:p.Leu129_Arg130insLeu | |
| ENST00000643715.1:c.384_386dup (LRTOMT) | ENSP00000496019.1:p.Leu129_Arg130insLeu | |
| ENST00000644745.1:n.519_521dup (LRRC51) | ||
| ENST00000645358.1:c.*447_*449dup (LRRC51) | ENSP00000495121.1:n.*447_*449dup | |
| ENST00000646163.1:c.-31_-29dup (LRTOMT) | ENSP00000494749.1:n.-31_-29dup | |
| ENST00000647530.1:c.384_386dup (LRRC51) | ENSP00000494072.1:p.Leu129_Arg130insLeu | |
| ENST00000289488.6:c.384_386dup (LRRC51) | ENSP00000289488.2:p.Leu129_Arg130insLeu | |
| ENST00000307198.11:c.-20_-18dup (LRRC51) | ENSP00000305742.7:n.-20_-18dup | |
| ENST00000324866.11:c.384_386dup (LRRC51) | ENSP00000440693.1:p.Leu129_Arg130insLeu | |
| ENST00000412777.6:n.411_413dup (LRRC51) | ||
| ENST00000419228.2:c.-20_-18dup (LRRC51) | ENSP00000392233.2:n.-20_-18dup | |
| ENST00000423494.6:c.330_332dup (LRRC51) | ENSP00000441249.1:p.Leu111_Arg112insLeu | |
| ENST00000427369.6:c.384_386dup (LRRC51) | ENSP00000409403.2:p.Leu129_Arg130insLeu | |
| ENST00000435085.5:c.-20_-18dup (LRRC51) | ENSP00000409789.1:n.-20_-18dup | |
| ENST00000439209.5:c.384_386dup (LRRC51) | ENSP00000395139.1:p.Leu129_Arg130insLeu | |
| ENST00000440313.2:c.-20_-18dup (LRRC51) | ENSP00000390485.2:n.-20_-18dup | |
| ENST00000447974.5:c.384_386dup (LRRC51) | ENSP00000414271.2:p.Leu129_Arg130insLeu | |
| ENST00000535107.5:c.267-268_267-266dup (LAMTOR1) | ENSP00000445170.1:n.267-268_267-266dup | |
| ENST00000535883.5:c.*447_*449dup (LRRC51) | ENSP00000437561.1:n.*447_*449dup | |
| ENST00000536917.1:c.384_386dup (LRRC51) | ENSP00000443421.1:p.Leu129_Arg130insLeu | |
| ENST00000538478.5:c.384_386dup (LRRC51) | ENSP00000444583.1:p.Leu129_Arg130insLeu | |
| ENST00000539271.5:c.-20_-18dup (LRRC51) | ENSP00000442267.1:n.-20_-18dup | |
| ENST00000539587.5:c.-20_-18dup (LRRC51) | ENSP00000437649.1:n.-20_-18dup | |
| ENST00000541614.5:c.384_386dup (LRRC51) | ENSP00000438522.1:p.Leu129_Arg130insLeu | |
| ENST00000544409.5:c.384_386dup (LRRC51) | ENSP00000440969.1:p.Leu129_Arg130insLeu | |
| ENST00000545249.5:c.393+3244_393+3246dup (LAMTOR1) | ENSP00000440738.1:n.393+3244_393+3246dup | |
| ENST00000615940.4:c.330_332dup (LRRC51) | ENSP00000482923.1:p.Leu111_Arg112insLeu | |
| NM_001145307.4:c.384_386dup (LRTOMT) | NP_001138779.1:p.Leu129_Arg130insLeu | |
| NM_001145308.4:c.-20_-18dup (LRTOMT) | NP_001138780.1:n.-20_-18dup | |
| NM_001145309.3:c.-20_-18dup (LRTOMT) | NP_001138781.1:n.-20_-18dup | |
| NM_001145310.3:c.-20_-18dup (LRTOMT) | NP_001138782.1:n.-20_-18dup | |
| NM_001205138.3:c.330_332dup (LRTOMT) | NP_001192067.1:p.Leu111_Arg112insLeu | |
| NM_001271471.2:c.384_386dup (LRTOMT) | NP_001258400.1:p.Leu129_Arg130insLeu | |
| NM_145309.5:c.384_386dup (LRTOMT) | NP_660352.1:p.Leu129_Arg130insLeu | |
| NR_026886.3:n.1258_1260dup (LRTOMT) | ||
| XM_006718472.2:c.384_386dup (LRTOMT) | XP_006718535.1:p.Leu129_Arg130insLeu | |
| XM_006718473.2:c.384_386dup (LRTOMT) | XP_006718536.1:p.Leu129_Arg130insLeu | |
| XM_006718474.2:c.384_386dup (LRTOMT) | XP_006718537.1:p.Leu129_Arg130insLeu | |
| XM_011544847.1:c.384_386dup (LRTOMT) | XP_011543149.1:p.Leu129_Arg130insLeu | |
| XM_011544848.1:c.384_386dup (LRTOMT) | XP_011543150.1:p.Leu129_Arg130insLeu | |
| NM_001318803.1:c.384_386dup (LRTOMT) | NP_001305732.1:p.Leu129_Arg130insLeu | |
| NR_134858.1:n.857_859dup (LRTOMT) | ||
| XM_006718473.4:c.384_386dup (LRTOMT) | XP_006718536.1:p.Leu129_Arg130insLeu | |
| XM_006718474.4:c.384_386dup (LRTOMT) | XP_006718537.1:p.Leu129_Arg130insLeu | |
| XM_011544847.3:c.384_386dup (LRTOMT) | XP_011543149.1:p.Leu129_Arg130insLeu | |
| XM_011544848.3:c.384_386dup (LRTOMT) | XP_011543150.1:p.Leu129_Arg130insLeu | |
| NM_001145307.5:c.384_386dup (LRTOMT) | NP_001138779.1:p.Leu129_Arg130insLeu | |
| NM_001145308.5:c.-20_-18dup (LRTOMT) | NP_001138780.1:n.-20_-18dup | |
| NM_001145309.4:c.-20_-18dup (LRTOMT) | NP_001138781.1:n.-20_-18dup | |
| NM_001145310.4:c.-20_-18dup (LRTOMT) | NP_001138782.1:n.-20_-18dup | |
| NM_001205138.4:c.330_332dup (LRTOMT) | NP_001192067.1:p.Leu111_Arg112insLeu | |
| NM_001271471.3:c.384_386dup (LRTOMT) | NP_001258400.1:p.Leu129_Arg130insLeu | |
| NM_001318803.2:c.384_386dup (LRTOMT) | NP_001305732.1:p.Leu129_Arg130insLeu | |
| NM_145309.6:c.384_386dup (LRTOMT) MANE Select | NP_660352.1:p.Leu129_Arg130insLeu | |
| NR_026886.4:n.739_741dup (LRTOMT) |