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_000011.10:g.8128236_8128237del , CM000673.2:g.8128236_8128237del | GRCh38 |
| NC_000011.9:g.8149783_8149784del , CM000673.1:g.8149783_8149784del | GRCh37 |
| NC_000011.8:g.8106359_8106360del | NCBI36 |
| NG_030416.1:g.45807_45808del | |
| NG_030416.2:g.45807_45808del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699457.1:n.236_237del | ||
| ENST00000309737.11:c.522-1430_522-1429del MANE Select | ENSP00000308820.6:n.522-1430_522-1429del | |
| ENST00000309737.10:c.522-1430_522-1429del | ENSP00000308820.6:n.522-1430_522-1429del | |
| ENST00000335425.7:c.125-17100_125-17099del | ENSP00000333988.7:n.125-17100_125-17099del | |
| ENST00000343202.8:c.522-1433_522-1432del | ENSP00000344904.4:n.522-1433_522-1432del | |
| ENST00000425599.6:c.427+10035_427+10036del | ENSP00000395320.2:n.427+10035_427+10036del | |
| ENST00000524799.5:n.383-1433_383-1432del | ||
| ENST00000526962.1:c.125-1433_125-1432del | ENSP00000434787.1:n.125-1433_125-1432del | |
| ENST00000528463.5:c.*439-1430_*439-1429del | ENSP00000435244.1:n.*439-1430_*439-1429del | |
| ENST00000530060.5:n.719_720del | ||
| ENST00000531450.1:c.522-1346_522-1345del | ENSP00000431658.1:n.522-1346_522-1345del | |
| NM_001135109.2:c.125-17100_125-17099del | NP_001128581.1:n.125-17100_125-17099del | |
| NM_001206671.2:c.522-1430_522-1429del | NP_001193600.1:n.522-1430_522-1429del | |
| NM_001206672.2:c.427+10035_427+10036del | NP_001193601.1:n.427+10035_427+10036del | |
| NM_024557.4:c.522-1433_522-1432del | NP_078833.3:n.522-1433_522-1432del | |
| NR_045405.1:n.625-1430_625-1429del | ||
| XM_006718317.2:c.522-1346_522-1345del | XP_006718380.1:n.522-1346_522-1345del | |
| XM_006718318.2:c.522-1433_522-1432del | XP_006718381.1:n.522-1433_522-1432del | |
| XR_428848.2:n.616-1346_616-1345del | ||
| XR_428851.2:n.616-1346_616-1345del | ||
| XR_930896.1:n.616-1346_616-1345del | ||
| XR_930897.1:n.616-1346_616-1345del | ||
| XR_930898.1:n.616-1346_616-1345del | ||
| XR_930899.1:n.616-1346_616-1345del | ||
| XR_930900.1:n.616-1346_616-1345del | ||
| XR_930901.1:n.616-1430_616-1429del | ||
| XR_930902.1:n.616-1433_616-1432del | ||
| XR_930903.1:n.617-1430_617-1429del | ||
| XR_930904.1:n.656_657del | ||
| XR_930905.1:n.719_720del | ||
| XR_930906.1:n.733_734del | ||
| NM_001135109.3:c.125-17100_125-17099del | NP_001128581.1:n.125-17100_125-17099del | |
| NM_001206671.3:c.522-1430_522-1429del | NP_001193600.1:n.522-1430_522-1429del | |
| NM_001206672.3:c.427+10035_427+10036del | NP_001193601.1:n.427+10035_427+10036del | |
| NM_001346690.1:c.20_21del | NP_001333619.1:p.Gln7ArgfsTer13 | |
| NM_001346691.1:c.521+9141_521+9142del | NP_001333620.1:n.521+9141_521+9142del | |
| NM_001346692.1:c.375-1433_375-1432del | NP_001333621.1:n.375-1433_375-1432del | |
| NM_001346693.1:c.375-1346_375-1345del | NP_001333622.1:n.375-1346_375-1345del | |
| NM_001346694.1:c.375-1430_375-1429del | NP_001333623.1:n.375-1430_375-1429del | |
| NM_024557.5:c.522-1433_522-1432del | NP_078833.3:n.522-1433_522-1432del | |
| NR_144484.1:n.533-1433_533-1432del | ||
| NR_144485.1:n.676-1433_676-1432del | ||
| NR_144497.1:n.230-1433_230-1432del | ||
| XM_006718317.4:c.522-1346_522-1345del | XP_006718380.1:n.522-1346_522-1345del | |
| XM_006718318.4:c.522-1433_522-1432del | XP_006718381.1:n.522-1433_522-1432del | |
| XM_017018287.2:c.522-1346_522-1345del | XP_016873776.1:n.522-1346_522-1345del | |
| XM_024448684.1:c.375-1433_375-1432del | XP_024304452.1:n.375-1433_375-1432del | |
| XM_024448685.1:c.*21_*22del | XP_024304453.1:n.*21_*22del | |
| XM_024448686.1:c.*21_*22del | XP_024304454.1:n.*21_*22del | |
| XR_001747957.2:n.554-1433_554-1432del | ||
| XR_001747959.2:n.2276_2277del | ||
| XR_002957192.1:n.554-1433_554-1432del | ||
| XR_002957193.1:n.554-1433_554-1432del | ||
| XR_002957194.1:n.622-1346_622-1345del | ||
| XR_002957195.1:n.553+9141_553+9142del | ||
| XR_428848.4:n.554-1346_554-1345del | ||
| XR_428851.4:n.554-1346_554-1345del | ||
| XR_930896.3:n.554-1346_554-1345del | ||
| XR_930897.3:n.554-1346_554-1345del | ||
| XR_930898.3:n.554-1346_554-1345del | ||
| XR_930900.3:n.554-1346_554-1345del | ||
| XR_930901.3:n.554-1430_554-1429del | ||
| XR_930903.3:n.622-1430_622-1429del | ||
| XR_930904.3:n.2276_2277del | ||
| XR_930905.3:n.2339_2340del | ||
| NM_001206671.4:c.522-1430_522-1429del MANE Select | NP_001193600.1:n.522-1430_522-1429del | |
| NM_001135109.4:c.125-17100_125-17099del | NP_001128581.1:n.125-17100_125-17099del | |
| NM_001206672.4:c.427+10035_427+10036del | NP_001193601.1:n.427+10035_427+10036del | |
| NM_001346690.2:c.20_21del | NP_001333619.1:p.Gln7ArgfsTer13 | |
| NM_001346691.2:c.521+9141_521+9142del | NP_001333620.1:n.521+9141_521+9142del | |
| NM_001346692.2:c.375-1433_375-1432del | NP_001333621.1:n.375-1433_375-1432del | |
| NM_001346693.2:c.375-1346_375-1345del | NP_001333622.1:n.375-1346_375-1345del | |
| NM_001346694.2:c.375-1430_375-1429del | NP_001333623.1:n.375-1430_375-1429del | |
| NM_024557.6:c.522-1433_522-1432del | NP_078833.3:n.522-1433_522-1432del | |
| NR_144484.2:n.464-1433_464-1432del | ||
| NR_144485.2:n.607-1433_607-1432del | ||
| NR_144497.2:n.161-1433_161-1432del |