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.12369613_12369617del , CM000665.2:g.12369613_12369617del | GRCh38 |
| NC_000003.11:g.12411112_12411116del , CM000665.1:g.12411112_12411116del | GRCh37 |
| NC_000003.10:g.12386112_12386116del | NCBI36 |
| NG_011749.1:g.86764_86768del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681966.1:c.-8-10091_-8-10087del | ENSP00000507572.1:n.-8-10091_-8-10087del | |
| ENST00000681982.1:c.-8-10091_-8-10087del | ENSP00000508065.1:n.-8-10091_-8-10087del | |
| ENST00000682446.1:c.-8-10091_-8-10087del | ENSP00000506813.1:n.-8-10091_-8-10087del | |
| ENST00000683586.1:c.-8-10091_-8-10087del | ENSP00000507893.1:n.-8-10091_-8-10087del | |
| ENST00000683699.1:c.83-10091_83-10087del | ENSP00000507823.1:n.83-10091_83-10087del | |
| ENST00000683749.1:c.-8-10091_-8-10087del | ENSP00000507050.1:n.-8-10091_-8-10087del | |
| ENST00000684065.1:c.-8-10091_-8-10087del | ENSP00000508347.1:n.-8-10091_-8-10087del | |
| ENST00000309576.11:c.-8-10091_-8-10087del | ENSP00000312472.7:n.-8-10091_-8-10087del | |
| ENST00000397000.6:c.-8-10091_-8-10087del | ENSP00000380196.2:n.-8-10091_-8-10087del | |
| ENST00000397010.7:c.-8-10091_-8-10087del | ENSP00000380205.3:n.-8-10091_-8-10087del | |
| ENST00000397015.7:c.-8-10091_-8-10087del | ENSP00000380210.3:n.-8-10091_-8-10087del | |
| ENST00000397026.7:c.-269-2238_-269-2234del | ENSP00000380221.3:n.-269-2238_-269-2234del | |
| ENST00000397029.8:c.-8-10091_-8-10087del | ENSP00000380224.4:n.-8-10091_-8-10087del | |
| ENST00000438682.6:c.-8-10091_-8-10087del | ENSP00000392285.2:n.-8-10091_-8-10087del | |
| ENST00000455517.6:c.-8-10091_-8-10087del | ENSP00000411931.2:n.-8-10091_-8-10087del | |
| ENST00000643197.2:c.-8-10091_-8-10087del | ENSP00000495840.2:n.-8-10091_-8-10087del | |
| ENST00000643888.2:c.-8-10091_-8-10087del | ENSP00000494934.2:n.-8-10091_-8-10087del | |
| ENST00000644622.2:c.-8-10091_-8-10087del | ENSP00000494873.2:n.-8-10091_-8-10087del | |
| ENST00000651735.1:c.-8-10091_-8-10087del MANE Select | ENSP00000498313.1:n.-8-10091_-8-10087del | |
| ENST00000652098.1:c.-17-36269_-17-36265del | ENSP00000498300.1:n.-17-36269_-17-36265del | |
| ENST00000652431.1:c.-92-11709_-92-11705del | ENSP00000498717.1:n.-92-11709_-92-11705del | |
| ENST00000652522.1:c.-8-10091_-8-10087del | ENSP00000498500.1:n.-8-10091_-8-10087del | |
| ENST00000287820.10:c.83-10091_83-10087del | ENSP00000287820.6:n.83-10091_83-10087del | |
| ENST00000309576.10:c.-2-10091_-2-10087del | ENSP00000312472.6:n.-2-10091_-2-10087del | |
| ENST00000397000.5:c.-2-10091_-2-10087del | ENSP00000380196.1:n.-2-10091_-2-10087del | |
| ENST00000397010.6:c.-2-10091_-2-10087del | ENSP00000380205.2:n.-2-10091_-2-10087del | |
| ENST00000397012.6:c.-2-10091_-2-10087del | ENSP00000380207.2:n.-2-10091_-2-10087del | |
| ENST00000397015.6:c.-2-10091_-2-10087del | ENSP00000380210.2:n.-2-10091_-2-10087del | |
| ENST00000397023.5:c.83-2238_83-2234del | ENSP00000380218.1:n.83-2238_83-2234del | |
| ENST00000397026.6:c.-245-2238_-245-2234del | ENSP00000380221.2:n.-245-2238_-245-2234del | |
| ENST00000397029.7:c.-2-10091_-2-10087del | ENSP00000380224.3:n.-2-10091_-2-10087del | |
| ENST00000438682.5:c.-2-10091_-2-10087del | ENSP00000392285.1:n.-2-10091_-2-10087del | |
| ENST00000455517.5:c.-2-10091_-2-10087del | ENSP00000411931.1:n.-2-10091_-2-10087del | |
| ENST00000477039.5:n.204-10091_204-10087del | ||
| ENST00000497594.5:n.99-10091_99-10087del | ||
| NM_005037.5:c.-2-10091_-2-10087del | NP_005028.4:n.-2-10091_-2-10087del | |
| NM_015869.4:c.83-10091_83-10087del | NP_056953.2:n.83-10091_83-10087del | |
| NM_138711.3:c.-2-10091_-2-10087del | NP_619725.2:n.-2-10091_-2-10087del | |
| NM_138712.3:c.-2-10091_-2-10087del | NP_619726.2:n.-2-10091_-2-10087del | |
| XM_011533840.1:c.-2-10091_-2-10087del | XP_011532142.1:n.-2-10091_-2-10087del | |
| XM_011533841.1:c.-2-10091_-2-10087del | XP_011532143.1:n.-2-10091_-2-10087del | |
| XM_011533842.1:c.83-10091_83-10087del | XP_011532144.1:n.83-10091_83-10087del | |
| XM_011533843.1:c.83-10091_83-10087del | XP_011532145.1:n.83-10091_83-10087del | |
| XM_011533844.1:c.-2-10091_-2-10087del | XP_011532146.1:n.-2-10091_-2-10087del | |
| NM_001330615.1:c.-2-10091_-2-10087del | NP_001317544.1:n.-2-10091_-2-10087del | |
| NM_001354666.1:c.-2-10091_-2-10087del | NP_001341595.1:n.-2-10091_-2-10087del | |
| NM_001354667.1:c.-2-10091_-2-10087del | NP_001341596.1:n.-2-10091_-2-10087del | |
| NM_001354668.1:c.83-10091_83-10087del | NP_001341597.1:n.83-10091_83-10087del | |
| NM_001354669.1:c.-435-10091_-435-10087del | NP_001341598.1:n.-435-10091_-435-10087del | |
| NM_001354670.1:c.-2-10091_-2-10087del | NP_001341599.1:n.-2-10091_-2-10087del | |
| XM_011533842.2:c.83-10091_83-10087del | XP_011532144.1:n.83-10091_83-10087del | |
| XM_011533843.2:c.83-10091_83-10087del | XP_011532145.1:n.83-10091_83-10087del | |
| XM_024453604.1:c.-2-10091_-2-10087del | XP_024309372.1:n.-2-10091_-2-10087del | |
| XM_024453605.1:c.-2-10091_-2-10087del | XP_024309373.1:n.-2-10091_-2-10087del | |
| XM_024453606.1:c.-2-10091_-2-10087del | XP_024309374.1:n.-2-10091_-2-10087del | |
| NM_001330615.2:c.-2-10091_-2-10087del | NP_001317544.1:n.-2-10091_-2-10087del | |
| NM_001354666.2:c.-2-10091_-2-10087del | NP_001341595.1:n.-2-10091_-2-10087del | |
| NM_001354667.2:c.-2-10091_-2-10087del | NP_001341596.1:n.-2-10091_-2-10087del | |
| NM_001354668.2:c.83-10091_83-10087del | NP_001341597.1:n.83-10091_83-10087del | |
| NM_001354669.2:c.-435-10091_-435-10087del | NP_001341598.1:n.-435-10091_-435-10087del | |
| NM_001354670.2:c.-2-10091_-2-10087del | NP_001341599.1:n.-2-10091_-2-10087del | |
| NM_001374261.1:c.-2-10091_-2-10087del | NP_001361190.1:n.-2-10091_-2-10087del | |
| NM_001374262.1:c.-2-10091_-2-10087del | NP_001361191.1:n.-2-10091_-2-10087del | |
| NM_001374263.1:c.-2-10091_-2-10087del | NP_001361192.1:n.-2-10091_-2-10087del | |
| NM_001374264.1:c.-2-10091_-2-10087del | NP_001361193.1:n.-2-10091_-2-10087del | |
| NM_001374265.1:c.83-10091_83-10087del | NP_001361194.1:n.83-10091_83-10087del | |
| NM_001374266.1:c.-2-10091_-2-10087del | NP_001361195.1:n.-2-10091_-2-10087del | |
| NM_005037.6:c.-2-10091_-2-10087del | NP_005028.4:n.-2-10091_-2-10087del | |
| NM_015869.5:c.83-10091_83-10087del | NP_056953.2:n.83-10091_83-10087del | |
| NM_138711.4:c.-2-10091_-2-10087del | NP_619725.2:n.-2-10091_-2-10087del | |
| NM_138712.4:c.-2-10091_-2-10087del | NP_619726.2:n.-2-10091_-2-10087del | |
| NM_001330615.4:c.-8-10091_-8-10087del | NP_001317544.2:n.-8-10091_-8-10087del | |
| NM_001354666.3:c.-8-10091_-8-10087del | NP_001341595.2:n.-8-10091_-8-10087del | |
| NM_001354667.3:c.-8-10091_-8-10087del | NP_001341596.2:n.-8-10091_-8-10087del | |
| NM_001374261.3:c.-8-10091_-8-10087del | NP_001361190.2:n.-8-10091_-8-10087del | |
| NM_001374262.3:c.-8-10091_-8-10087del | NP_001361191.2:n.-8-10091_-8-10087del | |
| NM_001374263.2:c.-8-10091_-8-10087del | NP_001361192.2:n.-8-10091_-8-10087del | |
| NM_001374264.2:c.-8-10091_-8-10087del | NP_001361193.2:n.-8-10091_-8-10087del | |
| NM_005037.7:c.-8-10091_-8-10087del | NP_005028.5:n.-8-10091_-8-10087del | |
| NM_138711.6:c.-8-10091_-8-10087del MANE Select | NP_619725.3:n.-8-10091_-8-10087del | |
| NM_138712.5:c.-8-10091_-8-10087del | NP_619726.3:n.-8-10091_-8-10087del |