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.12318671_12318675delinsCAAAT , CM000665.2:g.12318671_12318675delinsCAAAT | GRCh38 |
| NC_000003.11:g.12360170_12360174delinsCAAAT , CM000665.1:g.12360170_12360174delinsCAAAT | GRCh37 |
| NC_000003.10:g.12335170_12335174delinsCAAAT | NCBI36 |
| NG_011749.1:g.35822_35826delinsCAAAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681966.1:c.-9+6218_-9+6222delinsCAAAT | ENSP00000507572.1:n.-9+6218_-9+6222delins... | |
| ENST00000681982.1:c.-97+6218_-97+6222delinsCAAAT | ENSP00000508065.1:n.-97+6218_-97+6222deli... | |
| ENST00000682446.1:c.-9+6218_-9+6222delinsCAAAT | ENSP00000506813.1:n.-9+6218_-9+6222delins... | |
| ENST00000683586.1:c.-9+6218_-9+6222delinsCAAAT | ENSP00000507893.1:n.-9+6218_-9+6222delins... | |
| ENST00000683749.1:c.-9+6218_-9+6222delinsCAAAT | ENSP00000507050.1:n.-9+6218_-9+6222delins... | |
| ENST00000684065.1:c.-9+6218_-9+6222delinsCAAAT | ENSP00000508347.1:n.-9+6218_-9+6222delins... | |
| ENST00000309576.11:c.-9+6218_-9+6222delinsCAAAT | ENSP00000312472.7:n.-9+6218_-9+6222delins... | |
| ENST00000397000.6:c.-9+6218_-9+6222delinsCAAAT | ENSP00000380196.2:n.-9+6218_-9+6222delins... | |
| ENST00000397010.7:c.-9+6218_-9+6222delinsCAAAT | ENSP00000380205.3:n.-9+6218_-9+6222delins... | |
| ENST00000397015.7:c.-9+30651_-9+30655delinsCAAAT | ENSP00000380210.3:n.-9+30651_-9+30655deli... | |
| ENST00000397026.7:c.-270+6218_-270+6222delinsCAAAT | ENSP00000380221.3:n.-270+6218_-270+6222de... | |
| ENST00000397029.8:c.-9+30996_-9+31000delinsCAAAT | ENSP00000380224.4:n.-9+30996_-9+31000deli... | |
| ENST00000438682.6:c.-9+6218_-9+6222delinsCAAAT | ENSP00000392285.2:n.-9+6218_-9+6222delins... | |
| ENST00000455517.6:c.-9+29537_-9+29541delinsCAAAT | ENSP00000411931.2:n.-9+29537_-9+29541deli... | |
| ENST00000643197.2:c.-9+6218_-9+6222delinsCAAAT | ENSP00000495840.2:n.-9+6218_-9+6222delins... | |
| ENST00000643888.2:c.-97+6218_-97+6222delinsCAAAT | ENSP00000494934.2:n.-97+6218_-97+6222deli... | |
| ENST00000644622.2:c.-9+6218_-9+6222delinsCAAAT | ENSP00000494873.2:n.-9+6218_-9+6222delins... | |
| ENST00000651735.1:c.-9+6218_-9+6222delinsCAAAT MANE Select | ENSP00000498313.1:n.-9+6218_-9+6222delins... | |
| ENST00000652098.1:c.-18+6218_-18+6222delinsCAAAT | ENSP00000498300.1:n.-18+6218_-18+6222deli... | |
| ENST00000652431.1:c.-93+6218_-93+6222delinsCAAAT | ENSP00000498717.1:n.-93+6218_-93+6222deli... | |
| ENST00000652522.1:c.-9+6218_-9+6222delinsCAAAT | ENSP00000498500.1:n.-9+6218_-9+6222delins... | |
| ENST00000309576.10:c.-3+6218_-3+6222delinsCAAAT | ENSP00000312472.6:n.-3+6218_-3+6222delins... | |
| ENST00000397000.5:c.-3+6218_-3+6222delinsCAAAT | ENSP00000380196.1:n.-3+6218_-3+6222delins... | |
| ENST00000397010.6:c.-3+6218_-3+6222delinsCAAAT | ENSP00000380205.2:n.-3+6218_-3+6222delins... | |
| ENST00000397012.6:c.-3+6218_-3+6222delinsCAAAT | ENSP00000380207.2:n.-3+6218_-3+6222delins... | |
| ENST00000397015.6:c.-3+30651_-3+30655delinsCAAAT | ENSP00000380210.2:n.-3+30651_-3+30655deli... | |
| ENST00000397026.6:c.-246+6218_-246+6222delinsCAAAT | ENSP00000380221.2:n.-246+6218_-246+6222de... | |
| ENST00000397029.7:c.-3+30996_-3+31000delinsCAAAT | ENSP00000380224.3:n.-3+30996_-3+31000deli... | |
| ENST00000438682.5:c.-3+6218_-3+6222delinsCAAAT | ENSP00000392285.1:n.-3+6218_-3+6222delins... | |
| ENST00000455517.5:c.-3+29537_-3+29541delinsCAAAT | ENSP00000411931.1:n.-3+29537_-3+29541deli... | |
| ENST00000497594.5:n.98+6218_98+6222delinsCAAAT | ||
| NM_005037.5:c.-3+30651_-3+30655delinsCAAAT | NP_005028.4:n.-3+30651_-3+30655delinsCAAA... | |
| NM_138711.3:c.-3+6218_-3+6222delinsCAAAT | NP_619725.2:n.-3+6218_-3+6222delinsCAAAT | |
| NM_138712.3:c.-3+6218_-3+6222delinsCAAAT | NP_619726.2:n.-3+6218_-3+6222delinsCAAAT | |
| XM_011533840.1:c.-3+6218_-3+6222delinsCAAAT | XP_011532142.1:n.-3+6218_-3+6222delinsCAA... | |
| XM_011533841.1:c.-3+29537_-3+29541delinsCAAAT | XP_011532143.1:n.-3+29537_-3+29541delinsC... | |
| XM_011533844.1:c.-3+6218_-3+6222delinsCAAAT | XP_011532146.1:n.-3+6218_-3+6222delinsCAA... | |
| NM_001330615.1:c.-3+6218_-3+6222delinsCAAAT | NP_001317544.1:n.-3+6218_-3+6222delinsCAA... | |
| NM_001354666.1:c.-3+6218_-3+6222delinsCAAAT | NP_001341595.1:n.-3+6218_-3+6222delinsCAA... | |
| NM_001354667.1:c.-3+29537_-3+29541delinsCAAAT | NP_001341596.1:n.-3+29537_-3+29541delinsC... | |
| NM_001354669.1:c.-436+6218_-436+6222delinsCAAAT | NP_001341598.1:n.-436+6218_-436+6222delin... | |
| NM_001354670.1:c.-3+6218_-3+6222delinsCAAAT | NP_001341599.1:n.-3+6218_-3+6222delinsCAA... | |
| XM_024453604.1:c.-3+6218_-3+6222delinsCAAAT | XP_024309372.1:n.-3+6218_-3+6222delinsCAA... | |
| XM_024453605.1:c.-3+6218_-3+6222delinsCAAAT | XP_024309373.1:n.-3+6218_-3+6222delinsCAA... | |
| XM_024453606.1:c.-3+6218_-3+6222delinsCAAAT | XP_024309374.1:n.-3+6218_-3+6222delinsCAA... | |
| NM_001330615.2:c.-3+6218_-3+6222delinsCAAAT | NP_001317544.1:n.-3+6218_-3+6222delinsCAA... | |
| NM_001354666.2:c.-3+6218_-3+6222delinsCAAAT | NP_001341595.1:n.-3+6218_-3+6222delinsCAA... | |
| NM_001354667.2:c.-3+29537_-3+29541delinsCAAAT | NP_001341596.1:n.-3+29537_-3+29541delinsC... | |
| NM_001354669.2:c.-436+6218_-436+6222delinsCAAAT | NP_001341598.1:n.-436+6218_-436+6222delin... | |
| NM_001354670.2:c.-3+6218_-3+6222delinsCAAAT | NP_001341599.1:n.-3+6218_-3+6222delinsCAA... | |
| NM_001374261.1:c.-3+6218_-3+6222delinsCAAAT | NP_001361190.1:n.-3+6218_-3+6222delinsCAA... | |
| NM_001374262.1:c.-91+6218_-91+6222delinsCAAAT | NP_001361191.1:n.-91+6218_-91+6222delinsC... | |
| NM_001374263.1:c.-3+6218_-3+6222delinsCAAAT | NP_001361192.1:n.-3+6218_-3+6222delinsCAA... | |
| NM_001374264.1:c.-3+6218_-3+6222delinsCAAAT | NP_001361193.1:n.-3+6218_-3+6222delinsCAA... | |
| NM_001374266.1:c.-3+6218_-3+6222delinsCAAAT | NP_001361195.1:n.-3+6218_-3+6222delinsCAA... | |
| NM_005037.6:c.-3+30651_-3+30655delinsCAAAT | NP_005028.4:n.-3+30651_-3+30655delinsCAAA... | |
| NM_138711.4:c.-3+6218_-3+6222delinsCAAAT | NP_619725.2:n.-3+6218_-3+6222delinsCAAAT | |
| NM_138712.4:c.-3+6218_-3+6222delinsCAAAT | NP_619726.2:n.-3+6218_-3+6222delinsCAAAT | |
| NM_001330615.4:c.-9+6218_-9+6222delinsCAAAT | NP_001317544.2:n.-9+6218_-9+6222delinsCAA... | |
| NM_001354666.3:c.-9+6218_-9+6222delinsCAAAT | NP_001341595.2:n.-9+6218_-9+6222delinsCAA... | |
| NM_001354667.3:c.-9+29537_-9+29541delinsCAAAT | NP_001341596.2:n.-9+29537_-9+29541delinsC... | |
| NM_001374261.3:c.-9+6218_-9+6222delinsCAAAT | NP_001361190.2:n.-9+6218_-9+6222delinsCAA... | |
| NM_001374262.3:c.-97+6218_-97+6222delinsCAAAT | NP_001361191.2:n.-97+6218_-97+6222delinsC... | |
| NM_001374263.2:c.-9+6218_-9+6222delinsCAAAT | NP_001361192.2:n.-9+6218_-9+6222delinsCAA... | |
| NM_001374264.2:c.-9+6218_-9+6222delinsCAAAT | NP_001361193.2:n.-9+6218_-9+6222delinsCAA... | |
| NM_005037.7:c.-9+30651_-9+30655delinsCAAAT | NP_005028.5:n.-9+30651_-9+30655delinsCAAA... | |
| NM_138711.6:c.-9+6218_-9+6222delinsCAAAT MANE Select | NP_619725.3:n.-9+6218_-9+6222delinsCAAAT | |
| NM_138712.5:c.-9+6218_-9+6222delinsCAAAT | NP_619726.3:n.-9+6218_-9+6222delinsCAAAT |