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.193637939_193637940delinsGT , CM000665.2:g.193637939_193637940delinsGT | GRCh38 |
| NC_000003.11:g.193355728_193355729delinsGT , CM000665.1:g.193355728_193355729delinsGT | GRCh37 |
| NC_000003.10:g.194838422_194838423delinsGT | NCBI36 |
| NG_011605.1:g.49796_49797delinsGT , LRG_337:g.49796_49797delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361510.8:c.1036-13_1036-12delinsGT MANE Select | ENSP00000355324.2:n.1036-13_1036-12delins... | |
| ENST00000361828.7:c.871-13_871-12delinsGT | ENSP00000354429.3:n.871-13_871-12delinsGT... | |
| ENST00000361908.8:c.982-13_982-12delinsGT | ENSP00000354681.3:n.982-13_982-12delinsGT... | |
| ENST00000392436.7:c.871-13_871-12delinsGT | ENSP00000376231.3:n.871-13_871-12delinsGT... | |
| ENST00000392437.6:c.925-13_925-12delinsGT | ENSP00000376232.2:n.925-13_925-12delinsGT... | |
| ENST00000642289.1:c.966-13_966-12delinsGT | ||
| ENST00000642445.1:c.871-13_871-12delinsGT | ENSP00000495535.1:n.871-13_871-12delinsGT... | |
| ENST00000642593.1:c.871-13_871-12delinsGT | ENSP00000494273.1:n.871-13_871-12delinsGT... | |
| ENST00000643329.1:c.553-13_553-12delinsGT | ENSP00000493673.1:n.553-13_553-12delinsGT... | |
| ENST00000643737.1:c.*952-13_*952-12delinsGT | ENSP00000494210.1:n.*952-13_*952-12delins... | |
| ENST00000644595.1:c.871-13_871-12delinsGT | ENSP00000494121.1:n.871-13_871-12delinsGT... | |
| ENST00000644629.1:c.531-13_531-12delinsGT | ||
| ENST00000644841.1:c.499-13_499-12delinsGT | ENSP00000493988.1:n.499-13_499-12delinsGT... | |
| ENST00000644959.1:c.840-13_840-12delinsGT | ||
| ENST00000645553.1:c.886-13_886-12delinsGT | ENSP00000494725.1:n.886-13_886-12delinsGT... | |
| ENST00000646085.1:c.*349-13_*349-12delinsGT | ENSP00000494509.1:n.*349-13_*349-12delins... | |
| ENST00000646277.1:c.1036-13_1036-12delinsGT | ENSP00000495289.1:n.1036-13_1036-12delins... | |
| ENST00000646699.1:c.966-13_966-12delinsGT | ||
| ENST00000646793.1:c.763-13_763-12delinsGT | ENSP00000494512.1:n.763-13_763-12delinsGT... | |
| ENST00000361150.6:c.874-13_874-12delinsGT | ENSP00000354781.2:n.874-13_874-12delinsGT... | |
| ENST00000361510.6:c.1036-13_1036-12delinsGT | ENSP00000355324.2:n.1036-13_1036-12delins... | |
| ENST00000361715.6:c.928-13_928-12delinsGT | ENSP00000355311.2:n.928-13_928-12delinsGT... | |
| ENST00000361828.6:c.925-13_925-12delinsGT | ENSP00000354429.2:n.925-13_925-12delinsGT... | |
| ENST00000361908.7:c.982-13_982-12delinsGT | ENSP00000354681.3:n.982-13_982-12delinsGT... | |
| ENST00000392438.7:c.871-13_871-12delinsGT | ENSP00000376233.3:n.871-13_871-12delinsGT... | |
| ENST00000475899.1:n.67-13_67-12delinsGT | ||
| ENST00000495476.1:n.392-13_392-12delinsGT | ||
| ENST00000497189.5:n.357-13_357-12delinsGT | ||
| NM_015560.2:c.871-13_871-12delinsGT , LRG_337t1:c.871-13_871-12delinsGT | NP_056375.2:n.871-13_871-12delinsGT | |
| NM_130831.2:c.763-13_763-12delinsGT | NP_570844.1:n.763-13_763-12delinsGT | |
| NM_130832.2:c.817-13_817-12delinsGT | NP_570845.1:n.817-13_817-12delinsGT | |
| NM_130833.2:c.874-13_874-12delinsGT | NP_570846.1:n.874-13_874-12delinsGT | |
| NM_130834.2:c.925-13_925-12delinsGT | NP_570847.2:n.925-13_925-12delinsGT | |
| NM_130835.2:c.928-13_928-12delinsGT | NP_570848.1:n.928-13_928-12delinsGT | |
| NM_130836.2:c.982-13_982-12delinsGT | NP_570849.2:n.982-13_982-12delinsGT | |
| NM_130837.2:c.1036-13_1036-12delinsGT , LRG_337t2:c.1036-13_1036-12delinsGT | NP_570850.2:n.1036-13_1036-12delinsGT | |
| XM_011512863.1:c.1036-13_1036-12delinsGT | XP_011511165.1:n.1036-13_1036-12delinsGT | |
| XM_011512864.1:c.982-13_982-12delinsGT | XP_011511166.1:n.982-13_982-12delinsGT | |
| XM_011512865.1:c.925-13_925-12delinsGT | XP_011511167.1:n.925-13_925-12delinsGT | |
| XM_011512866.1:c.874-13_874-12delinsGT | XP_011511168.1:n.874-13_874-12delinsGT | |
| XM_011512867.1:c.871-13_871-12delinsGT | XP_011511169.1:n.871-13_871-12delinsGT | |
| XM_011512868.1:c.763-13_763-12delinsGT | XP_011511170.1:n.763-13_763-12delinsGT | |
| XM_011512869.1:c.1036-13_1036-12delinsGT | XP_011511171.1:n.1036-13_1036-12delinsGT | |
| NM_001354663.1:c.502-13_502-12delinsGT | NP_001341592.1:n.502-13_502-12delinsGT | |
| NM_001354664.1:c.499-13_499-12delinsGT | NP_001341593.1:n.499-13_499-12delinsGT | |
| XR_001740158.2:n.1265-13_1265-12delinsGT | ||
| XR_001740159.2:n.1100-13_1100-12delinsGT | ||
| NM_001354663.2:c.502-13_502-12delinsGT | NP_001341592.1:n.502-13_502-12delinsGT | |
| NM_001354664.2:c.499-13_499-12delinsGT | NP_001341593.1:n.499-13_499-12delinsGT | |
| NM_130831.3:c.763-13_763-12delinsGT | NP_570844.1:n.763-13_763-12delinsGT | |
| NM_130832.3:c.817-13_817-12delinsGT | NP_570845.1:n.817-13_817-12delinsGT | |
| NM_130834.3:c.925-13_925-12delinsGT | NP_570847.2:n.925-13_925-12delinsGT | |
| NM_130836.3:c.982-13_982-12delinsGT | NP_570849.2:n.982-13_982-12delinsGT | |
| NM_015560.3:c.871-13_871-12delinsGT | NP_056375.2:n.871-13_871-12delinsGT | |
| NM_130833.3:c.874-13_874-12delinsGT | NP_570846.1:n.874-13_874-12delinsGT | |
| NM_130835.3:c.928-13_928-12delinsGT | NP_570848.1:n.928-13_928-12delinsGT | |
| NM_130837.3:c.1036-13_1036-12delinsGT MANE Select | NP_570850.2:n.1036-13_1036-12delinsGT |