ClinVar Variation:
dbSNP:
MyVariant.info:
GRCh38
chr11:g.22211284_22211285del
GRCh38
chr11:g.22211279_22211280del
GRCh37
chr11:g.22232830_22232831del
GRCh37
chr11:g.22232825_22232826del
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22211284_22211285del , CM000673.2:g.22211284_22211285del | GRCh38 |
| NC_000011.9:g.22232830_22232831del , CM000673.1:g.22232830_22232831del | GRCh37 |
| NC_000011.8:g.22189406_22189407del | NCBI36 |
| NG_015844.1:g.23109_23110del , LRG_868:g.23109_23110del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682084.1:n.3282_3283del | ||
| ENST00000682266.1:c.-301_-300del | ENSP00000507766.1:n.-301_-300del | |
| ENST00000682341.1:c.108_109del | ENSP00000508251.1:p.Glu36AspfsTer7 | |
| ENST00000682530.1:c.105_106del | ENSP00000506805.1:p.Glu35AspfsTer7 | |
| ENST00000682684.1:n.529_530del | ||
| ENST00000683197.1:c.108_109del | ENSP00000507641.1:p.Glu36AspfsTer7 | |
| ENST00000683411.1:c.-362_-361del | ENSP00000508397.1:n.-362_-361del | |
| ENST00000683437.1:c.-270-9813_-270-9812del | ENSP00000508408.1:n.-270-9813_-270-9812del | |
| ENST00000683834.1:n.350_351del | ||
| ENST00000683897.1:n.394_395del | ||
| ENST00000684365.1:n.519_520del | ||
| ENST00000684663.1:c.105_106del | ENSP00000508009.1:p.Glu35AspfsTer7 | |
| ENST00000324559.9:c.108_109del MANE Select | ENSP00000315371.9:p.Glu36AspfsTer7 | |
| ENST00000648804.1:n.639_640del | ||
| ENST00000324559.8:c.108_109del | ENSP00000315371.8:p.Glu36AspfsTer7 | |
| NM_001142649.1:c.105_106del | NP_001136121.1:p.Glu35AspfsTer7 | |
| NM_213599.2:c.108_109del , LRG_868t1:c.108_109del | NP_998764.1:p.Glu36AspfsTer7 | |
| XM_005252820.2:c.108_109del | XP_005252877.2:p.Glu36AspfsTer7 | |
| XM_005252821.2:c.105_106del | XP_005252878.2:p.Glu35AspfsTer7 | |
| XM_005252822.3:c.30_31del | XP_005252879.1:p.Glu10AspfsTer7 | |
| XM_005252823.3:c.27_28del | XP_005252880.1:p.Glu9AspfsTer7 | |
| XM_011519949.1:c.87+7434_87+7435del | XP_011518251.1:n.87+7434_87+7435del | |
| XM_005252820.3:c.108_109del | XP_005252877.2:p.Glu36AspfsTer7 | |
| XM_005252821.3:c.105_106del | XP_005252878.2:p.Glu35AspfsTer7 | |
| XM_005252822.4:c.30_31del | XP_005252879.1:p.Glu10AspfsTer7 | |
| XM_011519949.2:c.87+7434_87+7435del | XP_011518251.1:n.87+7434_87+7435del | |
| NM_001142649.2:c.105_106del | NP_001136121.1:p.Glu35AspfsTer7 | |
| NM_213599.3:c.108_109del MANE Select | NP_998764.1:p.Glu36AspfsTer7 |