UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37014544_37014545delinsCG , CM000665.2:g.37014544_37014545delinsCG | GRCh38 |
| NC_000003.11:g.37056035_37056036delinsCG , CM000665.1:g.37056035_37056036delinsCG | GRCh37 |
| NC_000003.10:g.37031039_37031040delinsCG | NCBI36 |
| NG_007109.2:g.26195_26196delinsCG , LRG_216:g.26195_26196delinsCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.790_790+1delinsCG | ||
| ENST00000429117.6:c.496_496+1delinsCG | ||
| ENST00000450420.6:c.790_790+1delinsCG | ||
| ENST00000456676.7:c.790_790+1delinsCG | ||
| ENST00000458009.6:c.790_790+1delinsCG | ||
| ENST00000492474.6:c.67_67+1delinsCG | ||
| ENST00000616768.6:c.790_790+1delinsCG | ||
| ENST00000673673.2:c.790_790+1delinsCG | ||
| ENST00000231790.8:c.790_790+1delinsCG | ||
| ENST00000413212.2:c.67_67+1delinsCG | ||
| ENST00000432299.6:c.*870_*870+1delinsCG | ||
| ENST00000441265.6:c.67_67+1delinsCG | ||
| ENST00000442249.6:n.692+2445_692+2446delinsCG | ||
| ENST00000447829.6:c.427_427+1delinsCG | ||
| ENST00000539477.6:c.67_67+1delinsCG | ||
| ENST00000673673.1:c.743_743+1delinsCG | ||
| ENST00000673713.1:n.821_821+1delinsCG | ||
| ENST00000673715.1:c.790_790+1delinsCG | ||
| ENST00000673897.1:c.*582_*582+1delinsCG | ||
| ENST00000673899.1:c.677+2445_677+2446delinsCG | ENSP00000501030.1:n.677+2445_677+2446delinsCG | |
| ENST00000673947.1:c.*930_*930+1delinsCG | ||
| ENST00000673972.1:c.*668_*668+1delinsCG | ||
| ENST00000673990.1:n.775_775+1delinsCG | ||
| ENST00000674019.1:c.67_67+1delinsCG | ||
| ENST00000674107.1:n.732_732+1delinsCG | ||
| ENST00000674111.1:c.790_790+1delinsCG | ||
| ENST00000231790.6:c.790_790+1delinsCG | ||
| ENST00000413212.1:c.113_113+1delinsCG | ||
| ENST00000435176.5:c.496_496+1delinsCG | ||
| ENST00000441265.5:c.67_67+1delinsCG | ||
| ENST00000447829.5:c.171_171+1delinsCG | ||
| ENST00000455445.6:c.67_67+1delinsCG | ||
| ENST00000456676.6:c.765_765+1delinsCG | ||
| ENST00000458009.5:c.131_131+1delinsCG | ||
| ENST00000458205.6:c.67_67+1delinsCG | ||
| ENST00000536378.5:c.67_67+1delinsCG | ||
| ENST00000539477.5:c.67_67+1delinsCG | ||
| NM_000249.3:c.790_790+1delinsCG , LRG_216t1:c.790_790+1delinsCG | ||
| NM_001167617.1:c.496_496+1delinsCG | ||
| NM_001167618.1:c.67_67+1delinsCG | ||
| NM_001167619.1:c.67_67+1delinsCG | ||
| NM_001258271.1:c.790_790+1delinsCG | ||
| NM_001258273.1:c.67_67+1delinsCG | ||
| NM_001258274.1:c.67_67+1delinsCG | ||
| XM_005265161.1:c.677+2445_677+2446delinsCG | XP_005265218.1:n.677+2445_677+2446delinsCG | |
| XM_005265163.1:c.67_67+1delinsCG | ||
| XM_005265164.1:c.67_67+1delinsCG | ||
| XM_005265166.1:c.-140_-140+1delinsCG | ||
| XM_011533727.1:c.-37_-37+1delinsCG | ||
| NM_001167617.2:c.496_496+1delinsCG | ||
| NM_001167618.2:c.67_67+1delinsCG | ||
| NM_001167619.2:c.67_67+1delinsCG | ||
| NM_001258274.2:c.67_67+1delinsCG | ||
| NM_001354615.1:c.67_67+1delinsCG | ||
| NM_001354616.1:c.67_67+1delinsCG | ||
| NM_001354617.1:c.67_67+1delinsCG | ||
| NM_001354618.1:c.67_67+1delinsCG | ||
| NM_001354619.1:c.67_67+1delinsCG | ||
| NM_001354620.1:c.496_496+1delinsCG | ||
| NM_001354621.1:c.-140+2445_-140+2446delinsCG | NP_001341550.1:n.-140+2445_-140+2446delinsCG | |
| NM_001354622.1:c.-140_-140+1delinsCG | ||
| NM_001354623.1:c.-140_-140+1delinsCG | ||
| NM_001354624.1:c.-37_-37+1delinsCG | ||
| NM_001354625.1:c.-37_-37+1delinsCG | ||
| NM_001354626.1:c.-37_-37+1delinsCG | ||
| NM_001354627.1:c.-37_-37+1delinsCG | ||
| NM_001354628.1:c.790_790+1delinsCG | ||
| NM_001354629.1:c.691_691+1delinsCG | ||
| NM_001354630.1:c.790_790+1delinsCG | ||
| XM_005265161.2:c.677+2445_677+2446delinsCG | XP_005265218.1:n.677+2445_677+2446delinsCG | |
| XM_017006450.2:c.-140+2445_-140+2446delinsCG | XP_016861939.1:n.-140+2445_-140+2446delinsCG | |
| NM_000249.4:c.790_790+1delinsCG | ||
| NM_001167617.3:c.496_496+1delinsCG | ||
| NM_001167618.3:c.67_67+1delinsCG | ||
| NM_001167619.3:c.67_67+1delinsCG | ||
| NM_001258271.2:c.790_790+1delinsCG | ||
| NM_001258273.2:c.67_67+1delinsCG | ||
| NM_001258274.3:c.67_67+1delinsCG | ||
| NM_001354615.2:c.67_67+1delinsCG | ||
| NM_001354616.2:c.67_67+1delinsCG | ||
| NM_001354617.2:c.67_67+1delinsCG | ||
| NM_001354618.2:c.67_67+1delinsCG | ||
| NM_001354619.2:c.67_67+1delinsCG | ||
| NM_001354620.2:c.496_496+1delinsCG | ||
| NM_001354621.2:c.-140+2445_-140+2446delinsCG | NP_001341550.1:n.-140+2445_-140+2446delinsCG | |
| NM_001354622.2:c.-140_-140+1delinsCG | ||
| NM_001354623.2:c.-140_-140+1delinsCG | ||
| NM_001354624.2:c.-37_-37+1delinsCG | ||
| NM_001354625.2:c.-37_-37+1delinsCG | ||
| NM_001354626.2:c.-37_-37+1delinsCG | ||
| NM_001354627.2:c.-37_-37+1delinsCG | ||
| NM_001354628.2:c.790_790+1delinsCG | ||
| NM_001354629.2:c.691_691+1delinsCG | ||
| NM_001354630.2:c.790_790+1delinsCG |