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.12294231_12294233delinsGAT , CM000665.2:g.12294231_12294233delinsGAT | GRCh38 |
| NC_000003.11:g.12335730_12335732delinsGAT , CM000665.1:g.12335730_12335732delinsGAT | GRCh37 |
| NC_000003.10:g.12310730_12310732delinsGAT | NCBI36 |
| NG_011749.1:g.11382_11384delinsGAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681966.1:c.-83+6211_-83+6213delinsGAT | ENSP00000507572.1:n.-83+6211_-83+6213deli... | |
| ENST00000681982.1:c.-171+5097_-171+5099delinsGAT | ENSP00000508065.1:n.-171+5097_-171+5099de... | |
| ENST00000309576.11:c.-83+6211_-83+6213delinsGAT | ENSP00000312472.7:n.-83+6211_-83+6213deli... | |
| ENST00000397010.7:c.-83+6556_-83+6558delinsGAT | ENSP00000380205.3:n.-83+6556_-83+6558deli... | |
| ENST00000397015.7:c.-9+6211_-9+6213delinsGAT | ENSP00000380210.3:n.-9+6211_-9+6213delins... | |
| ENST00000397026.7:c.-344+5097_-344+5099delinsGAT | ENSP00000380221.3:n.-344+5097_-344+5099de... | |
| ENST00000397029.8:c.-9+6556_-9+6558delinsGAT | ENSP00000380224.4:n.-9+6556_-9+6558delins... | |
| ENST00000455517.6:c.-9+5097_-9+5099delinsGAT | ENSP00000411931.2:n.-9+5097_-9+5099delins... | |
| ENST00000643197.2:c.-412+6211_-412+6213delinsGAT | ENSP00000495840.2:n.-412+6211_-412+6213de... | |
| ENST00000643888.2:c.-171+6211_-171+6213delinsGAT | ENSP00000494934.2:n.-171+6211_-171+6213de... | |
| ENST00000644622.2:c.-483-3638_-483-3636delinsGAT | ENSP00000494873.2:n.-483-3638_-483-3636de... | |
| ENST00000651735.1:c.-83+5097_-83+5099delinsGAT MANE Select | ENSP00000498313.1:n.-83+5097_-83+5099deli... | |
| ENST00000652098.1:c.-92+5097_-92+5099delinsGAT | ENSP00000498300.1:n.-92+5097_-92+5099deli... | |
| ENST00000652431.1:c.-167+5097_-167+5099delinsGAT | ENSP00000498717.1:n.-167+5097_-167+5099de... | |
| ENST00000652522.1:c.-154-3638_-154-3636delinsGAT | ENSP00000498500.1:n.-154-3638_-154-3636de... | |
| ENST00000309576.10:c.-77+6211_-77+6213delinsGAT | ENSP00000312472.6:n.-77+6211_-77+6213deli... | |
| ENST00000397010.6:c.-77+6556_-77+6558delinsGAT | ENSP00000380205.2:n.-77+6556_-77+6558deli... | |
| ENST00000397012.6:c.-77+5097_-77+5099delinsGAT | ENSP00000380207.2:n.-77+5097_-77+5099deli... | |
| ENST00000397015.6:c.-3+6211_-3+6213delinsGAT | ENSP00000380210.2:n.-3+6211_-3+6213delins... | |
| ENST00000397026.6:c.-320+5097_-320+5099delinsGAT | ENSP00000380221.2:n.-320+5097_-320+5099de... | |
| ENST00000397029.7:c.-3+6556_-3+6558delinsGAT | ENSP00000380224.3:n.-3+6556_-3+6558delins... | |
| ENST00000455517.5:c.-3+5097_-3+5099delinsGAT | ENSP00000411931.1:n.-3+5097_-3+5099delins... | |
| ENST00000497594.5:n.24+5097_24+5099delinsGAT | ||
| NM_005037.5:c.-3+6211_-3+6213delinsGAT | NP_005028.4:n.-3+6211_-3+6213delinsGAT | |
| NM_138711.3:c.-77+5097_-77+5099delinsGAT | NP_619725.2:n.-77+5097_-77+5099delinsGAT | |
| NM_138712.3:c.-77+6211_-77+6213delinsGAT | NP_619726.2:n.-77+6211_-77+6213delinsGAT | |
| XM_011533841.1:c.-3+5097_-3+5099delinsGAT | XP_011532143.1:n.-3+5097_-3+5099delinsGAT... | |
| XM_011533844.1:c.-77+5097_-77+5099delinsGAT | XP_011532146.1:n.-77+5097_-77+5099delinsG... | |
| NM_001354666.1:c.-77+6556_-77+6558delinsGAT | NP_001341595.1:n.-77+6556_-77+6558delinsG... | |
| NM_001354667.1:c.-3+5097_-3+5099delinsGAT | NP_001341596.1:n.-3+5097_-3+5099delinsGAT... | |
| NM_001354669.1:c.-510+6211_-510+6213delinsGAT | NP_001341598.1:n.-510+6211_-510+6213delin... | |
| NM_001354670.1:c.-77+5097_-77+5099delinsGAT | NP_001341599.1:n.-77+5097_-77+5099delinsG... | |
| NM_001330615.2:c.-77+5097_-77+5099delinsGAT | NP_001317544.1:n.-77+5097_-77+5099delinsG... | |
| NM_001354666.2:c.-77+6556_-77+6558delinsGAT | NP_001341595.1:n.-77+6556_-77+6558delinsG... | |
| NM_001354667.2:c.-3+5097_-3+5099delinsGAT | NP_001341596.1:n.-3+5097_-3+5099delinsGAT... | |
| NM_001354669.2:c.-510+6211_-510+6213delinsGAT | NP_001341598.1:n.-510+6211_-510+6213delin... | |
| NM_001354670.2:c.-77+5097_-77+5099delinsGAT | NP_001341599.1:n.-77+5097_-77+5099delinsG... | |
| NM_001374261.1:c.-77+6211_-77+6213delinsGAT | NP_001361190.1:n.-77+6211_-77+6213delinsG... | |
| NM_001374262.1:c.-165+5097_-165+5099delinsGAT | NP_001361191.1:n.-165+5097_-165+5099delin... | |
| NM_001374266.1:c.-77+5097_-77+5099delinsGAT | NP_001361195.1:n.-77+5097_-77+5099delinsG... | |
| NM_005037.6:c.-3+6211_-3+6213delinsGAT | NP_005028.4:n.-3+6211_-3+6213delinsGAT | |
| NM_138711.4:c.-77+5097_-77+5099delinsGAT | NP_619725.2:n.-77+5097_-77+5099delinsGAT | |
| NM_138712.4:c.-77+6211_-77+6213delinsGAT | NP_619726.2:n.-77+6211_-77+6213delinsGAT | |
| NM_001330615.4:c.-83+5097_-83+5099delinsGAT | NP_001317544.2:n.-83+5097_-83+5099delinsG... | |
| NM_001354666.3:c.-83+6556_-83+6558delinsGAT | NP_001341595.2:n.-83+6556_-83+6558delinsG... | |
| NM_001354667.3:c.-9+5097_-9+5099delinsGAT | NP_001341596.2:n.-9+5097_-9+5099delinsGAT... | |
| NM_001374261.3:c.-83+6211_-83+6213delinsGAT | NP_001361190.2:n.-83+6211_-83+6213delinsG... | |
| NM_001374262.3:c.-171+5097_-171+5099delinsGAT | NP_001361191.2:n.-171+5097_-171+5099delin... | |
| NM_005037.7:c.-9+6211_-9+6213delinsGAT | NP_005028.5:n.-9+6211_-9+6213delinsGAT | |
| NM_138711.6:c.-83+5097_-83+5099delinsGAT MANE Select | NP_619725.3:n.-83+5097_-83+5099delinsGAT | |
| NM_138712.5:c.-83+6211_-83+6213delinsGAT | NP_619726.3:n.-83+6211_-83+6213delinsGAT |