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_000009.12:g.33014588_33014663delinsTCAGGGGAGCCGCCCTAAAGGGGGCCCTTAAACTGGGTCTTGTCCGTTAGACATTCACTCAACAAACACTTCTTGA , CM000671.2:g.33014588_33014663delinsTCAGGGGAGCCGCCCTAAAGGGGGCCCTTAAACTGGGTCTTGTCCGTTAGACATTCACTCAACAAACACTTCTTGA | GRCh38 |
| NC_000009.11:g.33014586_33014661delinsTCAGGGGAGCCGCCCTAAAGGGGGCCCTTAAACTGGGTCTTGTCCGTTAGACATTCACTCAACAAACACTTCTTGA , CM000671.1:g.33014586_33014661delinsTCAGGGGAGCCGCCCTAAAGGGGGCCCTTAAACTGGGTCTTGTCCGTTAGACATTCACTCAACAAACACTTCTTGA | GRCh37 |
| NC_000009.10:g.33004586_33004661delinsTCAGGGGAGCCGCCCTAAAGGGGGCCCTTAAACTGGGTCTTGTCCGTTAGACATTCACTCAACAAACACTTCTTGA | NCBI36 |
| NG_012821.2:g.15469_15544delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436040.7:c.-5+10360_-5+10435delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ENSP00000400806.4:n.-5+10360_-5+10435deli... | |
| ENST00000460940.6:c.-5+10337_-5+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ENSP00000418311.1:n.-5+10337_-5+10412deli... | |
| ENST00000467331.6:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ENSP00000418733.1:n.-5+10141_-5+10216deli... | |
| ENST00000468275.6:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ENSP00000420263.2:n.-5+10141_-5+10216deli... | |
| ENST00000482687.6:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ENSP00000419289.2:n.-5+10141_-5+10216deli... | |
| ENST00000485479.6:c.-5+10337_-5+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ENSP00000418144.1:n.-5+10337_-5+10412deli... | |
| ENST00000495360.6:c.-5+10337_-5+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ENSP00000419623.2:n.-5+10337_-5+10412deli... | |
| ENST00000672281.1:n.193+3013_193+3088delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ||
| ENST00000673248.1:c.-127+10141_-127+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ENSP00000500601.1:n.-127+10141_-127+10216... | |
| ENST00000673360.1:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ENSP00000500360.1:n.-5+10141_-5+10216deli... | |
| ENST00000673487.1:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ENSP00000500943.1:n.-5+10141_-5+10216deli... | |
| ENST00000460945.5:n.169+10337_169+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ||
| ENST00000495360.5:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ENSP00000419623.1:n.-5+10141_-5+10216deli... | |
| XM_011517936.1:c.-264+10360_-264+10435delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | XP_011516238.1:n.-264+10360_-264+10435del... | |
| XM_011517937.1:c.-222+10337_-222+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | XP_011516239.1:n.-222+10337_-222+10412del... | |
| XM_017014837.2:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | XP_016870326.1:n.-5+10141_-5+10216delinsT... | |
| XM_024447575.1:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | XP_024303343.1:n.-5+10141_-5+10216delinsT... | |
| XM_024447576.1:c.-5+10337_-5+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | XP_024303344.1:n.-5+10337_-5+10412delinsT... | |
| XM_024447577.1:c.-5+10360_-5+10435delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | XP_024303345.1:n.-5+10360_-5+10435delinsT... | |
| XM_024447579.1:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | XP_024303347.1:n.-5+10141_-5+10216delinsT... | |
| XM_024447580.1:c.-5+10360_-5+10435delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | XP_024303348.1:n.-5+10360_-5+10435delinsT... | |
| XM_024447581.1:c.-264+10141_-264+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | XP_024303349.1:n.-264+10141_-264+10216del... | |
| XM_024447582.1:c.-264+10337_-264+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | XP_024303350.1:n.-264+10337_-264+10412del... | |
| NM_001368995.1:c.-5+10337_-5+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | NP_001355924.1:n.-5+10337_-5+10412delinsT... | |
| NM_001368996.1:c.-5+10360_-5+10435delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | NP_001355925.1:n.-5+10360_-5+10435delinsT... | |
| NM_001368997.1:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | NP_001355926.1:n.-5+10141_-5+10216delinsT... | |
| NM_001368999.1:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | NP_001355928.1:n.-5+10141_-5+10216delinsT... | |
| NM_001369000.1:c.-5+10141_-5+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | NP_001355929.1:n.-5+10141_-5+10216delinsT... | |
| NM_001369001.1:c.-5+10360_-5+10435delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | NP_001355930.1:n.-5+10360_-5+10435delinsT... | |
| NM_001369002.1:c.-264+10337_-264+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | NP_001355931.1:n.-264+10337_-264+10412del... | |
| NM_001369003.1:c.-264+10141_-264+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | NP_001355932.1:n.-264+10141_-264+10216del... | |
| NR_160922.1:n.317+10141_317+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ||
| NR_160923.1:n.121+10337_121+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ||
| NR_160924.1:n.121+10337_121+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ||
| NR_160925.1:n.317+10141_317+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ||
| NR_160926.1:n.121+10337_121+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ||
| NR_160927.1:n.317+10141_317+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ||
| NR_160928.1:n.317+10141_317+10216delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA | ||
| NR_160929.1:n.121+10337_121+10412delinsTCAAGAAGTGTTTGTTGAGTGAATGTCTAACGGACAAGACCCAGTTTAAGGGCCCCCTTTAGGGCGGCTCCCCTGA |