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_000016.10:g.28484120_28484123delinsTAGG , CM000678.2:g.28484120_28484123delinsTAGG | GRCh38 |
| NC_000016.9:g.28495441_28495444delinsTAGG , CM000678.1:g.28495441_28495444delinsTAGG | GRCh37 |
| NC_000016.8:g.28402942_28402945delinsTAGG | NCBI36 |
| NG_008654.2:g.13180_13183delinsCCTA , LRG_689:g.13180_13183delinsCCTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.606-5_606-2delinsCCTA | ENSP00000329171.9:n.606-5_606-2delinsCCTA... | |
| ENST00000355477.10:c.534-5_534-2delinsCCTA | ENSP00000347660.7:n.534-5_534-2delinsCCTA... | |
| ENST00000357857.14:c.516-5_516-2delinsCCTA | ENSP00000350523.9:n.516-5_516-2delinsCCTA... | |
| ENST00000359984.12:c.678-5_678-2delinsCCTA | ENSP00000353073.9:n.678-5_678-2delinsCCTA... | |
| ENST00000360019.8:c.606-5_606-2delinsCCTA | ENSP00000353116.3:n.606-5_606-2delinsCCTA... | |
| ENST00000395653.9:c.219-5_219-2delinsCCTA | ENSP00000379014.5:n.219-5_219-2delinsCCTA... | |
| ENST00000561689.6:n.963-5_963-2delinsCCTA | ||
| ENST00000564091.6:c.18-5_18-2delinsCCTA | ENSP00000454466.2:n.18-5_18-2delinsCCTA | |
| ENST00000565316.6:c.678-5_678-2delinsCCTA | ENSP00000456117.1:n.678-5_678-2delinsCCTA... | |
| ENST00000565778.6:c.309-5_309-2delinsCCTA | ENSP00000458015.1:n.309-5_309-2delinsCCTA... | |
| ENST00000566083.6:n.1136-5_1136-2delinsCCTA | ||
| ENST00000566824.6:n.658-5_658-2delinsCCTA | ||
| ENST00000567495.6:c.*137-5_*137-2delinsCCTA | ENSP00000456013.2:n.*137-5_*137-2delinsCC... | |
| ENST00000567963.6:c.516-5_516-2delinsCCTA | ENSP00000455387.2:n.516-5_516-2delinsCCTA... | |
| ENST00000568076.6:n.805-5_805-2delinsCCTA | ||
| ENST00000568422.6:c.461-5_461-2delinsCCTA | ENSP00000455549.2:n.461-5_461-2delinsCCTA... | |
| ENST00000568452.6:n.781-5_781-2delinsCCTA | ||
| ENST00000568472.6:n.554-5_554-2delinsCCTA | ||
| ENST00000568497.6:c.-292-5_-292-2delinsCCTA | ENSP00000456414.2:n.-292-5_-292-2delinsCC... | |
| ENST00000568558.6:c.381-5_381-2delinsCCTA | ENSP00000455603.2:n.381-5_381-2delinsCCTA... | |
| ENST00000569430.7:c.678-5_678-2delinsCCTA | ENSP00000454229.1:n.678-5_678-2delinsCCTA... | |
| ENST00000628023.3:c.223-5_223-2delinsCCTA | ENSP00000486178.1:n.223-5_223-2delinsCCTA... | |
| ENST00000635861.1:c.*202-5_*202-2delinsCCTA | ENSP00000490034.1:n.*202-5_*202-2delinsCC... | |
| ENST00000635887.1:c.678-5_678-2delinsCCTA | ENSP00000490709.1:n.678-5_678-2delinsCCTA... | |
| ENST00000635958.1:n.789-5_789-2delinsCCTA | ||
| ENST00000635973.1:c.429-5_429-2delinsCCTA | ENSP00000490363.1:n.429-5_429-2delinsCCTA... | |
| ENST00000636017.1:c.*202-5_*202-2delinsCCTA | ENSP00000490538.1:n.*202-5_*202-2delinsCC... | |
| ENST00000636078.1:n.720-5_720-2delinsCCTA | ||
| ENST00000636147.2:c.678-5_678-2delinsCCTA MANE Select | ENSP00000490105.1:n.678-5_678-2delinsCCTA... | |
| ENST00000636172.1:c.*202-5_*202-2delinsCCTA | ENSP00000490505.1:n.*202-5_*202-2delinsCC... | |
| ENST00000636228.1:c.372-5_372-2delinsCCTA | ENSP00000489627.1:n.372-5_372-2delinsCCTA... | |
| ENST00000636351.1:n.398-5_398-2delinsCCTA | ||
| ENST00000636503.1:c.678-5_678-2delinsCCTA | ENSP00000489824.1:n.678-5_678-2delinsCCTA... | |
| ENST00000636685.1:n.180_183delinsCCTA | ||
| ENST00000636766.1:c.678-5_678-2delinsCCTA | ENSP00000489841.1:n.678-5_678-2delinsCCTA... | |
| ENST00000636839.1:n.830-5_830-2delinsCCTA | ||
| ENST00000636853.1:n.1593-5_1593-2delinsCCTA | ||
| ENST00000636866.1:c.678-5_678-2delinsCCTA | ENSP00000490880.1:n.678-5_678-2delinsCCTA... | |
| ENST00000636907.1:n.824_827delinsCCTA | ||
| ENST00000636977.1:n.1746-5_1746-2delinsCCTA | ||
| ENST00000637050.1:n.760_763delinsCCTA | ||
| ENST00000637100.1:c.678-5_678-2delinsCCTA | ENSP00000490394.1:n.678-5_678-2delinsCCTA... | |
| ENST00000637107.1:c.*202-5_*202-2delinsCCTA | ENSP00000490248.1:n.*202-5_*202-2delinsCC... | |
| ENST00000637184.1:c.678-5_678-2delinsCCTA | ENSP00000489952.1:n.678-5_678-2delinsCCTA... | |
| ENST00000637299.1:c.*487-5_*487-2delinsCCTA | ENSP00000489823.1:n.*487-5_*487-2delinsCC... | |
| ENST00000637376.1:c.678-5_678-2delinsCCTA | ENSP00000490758.1:n.678-5_678-2delinsCCTA... | |
| ENST00000637578.1:c.*202-5_*202-2delinsCCTA | ENSP00000490206.1:n.*202-5_*202-2delinsCC... | |
| ENST00000637699.1:c.461-5_461-2delinsCCTA | ENSP00000490049.1:n.461-5_461-2delinsCCTA... | |
| ENST00000637745.1:c.17-5_17-2delinsCCTA | ||
| ENST00000637871.1:c.*202-5_*202-2delinsCCTA | ENSP00000490670.1:n.*202-5_*202-2delinsCC... | |
| ENST00000333496.13:c.606-5_606-2delinsCCTA | ENSP00000329171.9:n.606-5_606-2delinsCCTA... | |
| ENST00000355477.9:c.461-5_461-2delinsCCTA | ENSP00000347660.6:n.461-5_461-2delinsCCTA... | |
| ENST00000357806.11:c.381-5_381-2delinsCCTA | ENSP00000350457.7:n.381-5_381-2delinsCCTA... | |
| ENST00000357857.13:c.516-5_516-2delinsCCTA | ENSP00000350523.9:n.516-5_516-2delinsCCTA... | |
| ENST00000359984.11:c.372-5_372-2delinsCCTA | ENSP00000353073.8:n.372-5_372-2delinsCCTA... | |
| ENST00000360019.6:c.678-5_678-2delinsCCTA | ENSP00000353116.2:n.678-5_678-2delinsCCTA... | |
| ENST00000395653.8:c.378-5_378-2delinsCCTA | ENSP00000379014.4:n.378-5_378-2delinsCCTA... | |
| ENST00000561689.5:n.519-5_519-2delinsCCTA | ||
| ENST00000563874.5:n.2032-5_2032-2delinsCCTA | ||
| ENST00000564574.5:n.726-5_726-2delinsCCTA | ||
| ENST00000565047.1:n.272-5_272-2delinsCCTA | ||
| ENST00000565140.5:c.461-5_461-2delinsCCTA | ENSP00000455342.1:n.461-5_461-2delinsCCTA... | |
| ENST00000565316.5:c.678-5_678-2delinsCCTA | ENSP00000456117.1:n.678-5_678-2delinsCCTA... | |
| ENST00000565688.5:c.429-5_429-2delinsCCTA | ENSP00000456122.1:n.429-5_429-2delinsCCTA... | |
| ENST00000565778.5:c.309-5_309-2delinsCCTA | ENSP00000458015.1:n.309-5_309-2delinsCCTA... | |
| ENST00000566057.5:c.292-5_292-2delinsCCTA | ENSP00000456693.1:n.292-5_292-2delinsCCTA... | |
| ENST00000566083.5:n.909-5_909-2delinsCCTA | ||
| ENST00000566824.5:n.727-5_727-2delinsCCTA | ||
| ENST00000567495.5:c.461-5_461-2delinsCCTA | ENSP00000456013.1:n.461-5_461-2delinsCCTA... | |
| ENST00000567963.5:c.678-5_678-2delinsCCTA | ENSP00000455387.1:n.678-5_678-2delinsCCTA... | |
| ENST00000568076.5:n.461-5_461-2delinsCCTA | ||
| ENST00000568224.4:c.444-5_444-2delinsCCTA | ENSP00000454253.1:n.444-5_444-2delinsCCTA... | |
| ENST00000568422.5:c.314-5_314-2delinsCCTA | ENSP00000455549.1:n.314-5_314-2delinsCCTA... | |
| ENST00000568452.5:n.678-5_678-2delinsCCTA | ||
| ENST00000568472.5:n.158-5_158-2delinsCCTA | ||
| ENST00000568497.5:c.223-5_223-2delinsCCTA | ENSP00000456414.1:n.223-5_223-2delinsCCTA... | |
| ENST00000568558.5:c.219-5_219-2delinsCCTA | ENSP00000455603.1:n.219-5_219-2delinsCCTA... | |
| ENST00000569030.5:c.461-1451_461-1448delinsCCTA | ENSP00000454680.1:n.461-1451_461-1448deli... | |
| ENST00000569430.5:c.678-5_678-2delinsCCTA | ENSP00000454229.1:n.678-5_678-2delinsCCTA... | |
| ENST00000628023.2:c.223-5_223-2delinsCCTA | ENSP00000486178.1:n.223-5_223-2delinsCCTA... | |
| ENST00000631023.2:c.678-5_678-2delinsCCTA | ENSP00000486616.1:n.678-5_678-2delinsCCTA... | |
| NM_000086.2:c.678-5_678-2delinsCCTA , LRG_689t1:c.678-5_678-2delinsCCTA | NP_000077.1:n.678-5_678-2delinsCCTA | |
| NM_001042432.1:c.678-5_678-2delinsCCTA , LRG_689t2:c.678-5_678-2delinsCCTA | NP_001035897.1:n.678-5_678-2delinsCCTA | |
| NM_001286104.1:c.606-5_606-2delinsCCTA | NP_001273033.1:n.606-5_606-2delinsCCTA | |
| NM_001286105.1:c.378-5_378-2delinsCCTA | NP_001273034.1:n.378-5_378-2delinsCCTA | |
| NM_001286109.1:c.444-5_444-2delinsCCTA | NP_001273038.1:n.444-5_444-2delinsCCTA | |
| NM_001286110.1:c.516-5_516-2delinsCCTA | NP_001273039.1:n.516-5_516-2delinsCCTA | |
| NM_001042432.2:c.678-5_678-2delinsCCTA MANE Select | NP_001035897.1:n.678-5_678-2delinsCCTA | |
| NM_001286104.2:c.606-5_606-2delinsCCTA | NP_001273033.1:n.606-5_606-2delinsCCTA | |
| NM_001286105.2:c.378-5_378-2delinsCCTA | NP_001273034.1:n.378-5_378-2delinsCCTA | |
| NM_001286109.2:c.444-5_444-2delinsCCTA | NP_001273038.1:n.444-5_444-2delinsCCTA | |
| NM_001286110.2:c.516-5_516-2delinsCCTA | NP_001273039.1:n.516-5_516-2delinsCCTA |