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_000013.11:g.50947974_50947975delinsCT , CM000675.2:g.50947974_50947975delinsCT | GRCh38 |
| NC_000013.10:g.51522110_51522111delinsCT , CM000675.1:g.51522110_51522111delinsCT | GRCh37 |
| NC_000013.9:g.50420111_50420112delinsCT | NCBI36 |
| NG_009055.1:g.43219_43220delinsCT , LRG_279:g.43219_43220delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336617.8:c.617-13_617-12delinsCT MANE Select | ENSP00000337623.2:n.617-13_617-12delinsCT... | |
| ENST00000422660.6:c.617-13_617-12delinsCT | ENSP00000389877.1:n.617-13_617-12delinsCT... | |
| ENST00000459681.3:n.300-13_300-12delinsCT | ||
| ENST00000495244.7:n.628-13_628-12delinsCT | ||
| ENST00000611510.5:c.527-13_527-12delinsCT | ENSP00000481236.3:n.527-13_527-12delinsCT... | |
| ENST00000616907.2:c.617-13_617-12delinsCT | ENSP00000482701.2:n.617-13_617-12delinsCT... | |
| ENST00000642207.1:c.356-13_356-12delinsCT | ||
| ENST00000642454.1:c.527-13_527-12delinsCT | ENSP00000494221.1:n.527-13_527-12delinsCT... | |
| ENST00000642721.1:c.617-13_617-12delinsCT | ENSP00000495650.1:n.617-13_617-12delinsCT... | |
| ENST00000642995.1:c.500-13_500-12delinsCT | ENSP00000493499.1:n.500-13_500-12delinsCT... | |
| ENST00000643159.1:c.527-13_527-12delinsCT | ENSP00000495587.1:n.527-13_527-12delinsCT... | |
| ENST00000643215.1:c.487-13_487-12delinsCT | ||
| ENST00000643405.1:c.265-13_265-12delinsCT | ||
| ENST00000643529.1:c.130-13_130-12delinsCT | ||
| ENST00000643682.1:c.617-13_617-12delinsCT | ENSP00000493655.1:n.617-13_617-12delinsCT... | |
| ENST00000643774.1:c.581-13_581-12delinsCT | ENSP00000495482.1:n.581-13_581-12delinsCT... | |
| ENST00000644034.1:c.65-13_65-12delinsCT | ENSP00000495456.1:n.65-13_65-12delinsCT | |
| ENST00000644183.1:c.507-13_507-12delinsCT | ENSP00000495657.1:n.507-13_507-12delinsCT... | |
| ENST00000644297.1:c.*475-13_*475-12delinsCT | ENSP00000495519.1:n.*475-13_*475-12delins... | |
| ENST00000644420.1:n.643-13_643-12delinsCT | ||
| ENST00000644425.1:c.568-13_568-12delinsCT | ||
| ENST00000644518.1:c.*484-13_*484-12delinsCT | ENSP00000495793.1:n.*484-13_*484-12delins... | |
| ENST00000645188.1:c.608-13_608-12delinsCT | ENSP00000496224.1:n.608-13_608-12delinsCT... | |
| ENST00000645201.1:n.14-13_14-12delinsCT | ||
| ENST00000645333.1:n.549-13_549-12delinsCT | ||
| ENST00000645370.1:c.452-13_452-12delinsCT | ENSP00000494019.1:n.452-13_452-12delinsCT... | |
| ENST00000645618.1:c.527-13_527-12delinsCT | ENSP00000495429.1:n.527-13_527-12delinsCT... | |
| ENST00000645712.1:n.641-13_641-12delinsCT | ||
| ENST00000645955.1:c.617-13_617-12delinsCT | ENSP00000495755.1:n.617-13_617-12delinsCT... | |
| ENST00000645990.1:c.617-13_617-12delinsCT | ENSP00000496571.1:n.617-13_617-12delinsCT... | |
| ENST00000646092.1:c.581-13_581-12delinsCT | ENSP00000496293.1:n.581-13_581-12delinsCT... | |
| ENST00000646279.1:n.914-13_914-12delinsCT | ||
| ENST00000646339.1:c.279-13_279-12delinsCT | ENSP00000495773.1:n.279-13_279-12delinsCT... | |
| ENST00000646709.1:c.527-13_527-12delinsCT | ENSP00000495278.1:n.527-13_527-12delinsCT... | |
| ENST00000646731.1:c.608-13_608-12delinsCT | ENSP00000493828.1:n.608-13_608-12delinsCT... | |
| ENST00000646960.1:c.617-13_617-12delinsCT | ENSP00000496481.1:n.617-13_617-12delinsCT... | |
| ENST00000646964.1:n.1256-13_1256-12delinsCT | ||
| ENST00000647387.1:c.527-13_527-12delinsCT | ENSP00000495487.1:n.527-13_527-12delinsCT... | |
| ENST00000336617.7:c.617-13_617-12delinsCT | ENSP00000337623.2:n.617-13_617-12delinsCT... | |
| ENST00000422660.5:c.617-13_617-12delinsCT | ENSP00000389877.1:n.617-13_617-12delinsCT... | |
| ENST00000495244.6:n.628-13_628-12delinsCT | ||
| ENST00000611510.4:c.617-13_617-12delinsCT | ENSP00000481236.2:n.617-13_617-12delinsCT... | |
| ENST00000613449.4:n.2679-13_2679-12delinsCT | ||
| ENST00000621641.1:n.205-13_205-12delinsCT | ||
| NM_001142279.2:c.617-13_617-12delinsCT , LRG_279t1:c.617-13_617-12delinsCT | NP_001135751.1:n.617-13_617-12delinsCT | |
| NM_024570.3:c.617-13_617-12delinsCT , LRG_279t2:c.617-13_617-12delinsCT | NP_078846.2:n.617-13_617-12delinsCT | |
| XM_005266524.2:c.617-13_617-12delinsCT | XP_005266581.1:n.617-13_617-12delinsCT | |
| XM_005266525.2:c.617-13_617-12delinsCT | XP_005266582.1:n.617-13_617-12delinsCT | |
| XM_006719867.2:c.599-13_599-12delinsCT | XP_006719930.1:n.599-13_599-12delinsCT | |
| XM_011535229.1:c.617-13_617-12delinsCT | XP_011533531.1:n.617-13_617-12delinsCT | |
| XM_011535230.1:c.617-13_617-12delinsCT | XP_011533532.1:n.617-13_617-12delinsCT | |
| XM_011535231.1:c.617-13_617-12delinsCT | XP_011533533.1:n.617-13_617-12delinsCT | |
| XM_011535232.1:c.455-13_455-12delinsCT | XP_011533534.1:n.455-13_455-12delinsCT | |
| XM_011535233.1:c.209-13_209-12delinsCT | XP_011533535.1:n.209-13_209-12delinsCT | |
| XM_006719867.4:c.599-13_599-12delinsCT | XP_006719930.1:n.599-13_599-12delinsCT | |
| XM_011535230.2:c.617-13_617-12delinsCT | XP_011533532.1:n.617-13_617-12delinsCT | |
| XM_011535231.2:c.617-13_617-12delinsCT | XP_011533533.1:n.617-13_617-12delinsCT | |
| XM_011535233.2:c.209-13_209-12delinsCT | XP_011533535.1:n.209-13_209-12delinsCT | |
| XM_017020747.1:c.617-13_617-12delinsCT | XP_016876236.1:n.617-13_617-12delinsCT | |
| NM_024570.4:c.617-13_617-12delinsCT MANE Select | NP_078846.2:n.617-13_617-12delinsCT |