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.54105089_54105090insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC , CM000678.2:g.54105089_54105090insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | GRCh38 |
| NC_000016.9:g.54139001_54139002insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC , CM000678.1:g.54139001_54139002insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | GRCh37 |
| NC_000016.8:g.52696502_52696503insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NCBI36 |
| NG_012969.1:g.406127_406128insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471389.6:c.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC MANE Select | ENSP00000418823.1:n.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGG... | |
| ENST00000612285.2:c.390-6673_390-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ENSP00000490300.1:n.390-6673_390-6672insCGTCAAAGCCTGCACGTGGGC... | |
| ENST00000635892.1:n.215-6673_215-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ||
| ENST00000636091.1:n.2646-6673_2646-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ||
| ENST00000636992.1:c.*108-6673_*108-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ENSP00000489886.1:n.*108-6673_*108-6672insCGTCAAAGCCTGCACGTGG... | |
| ENST00000637562.1:c.*56-6673_*56-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ENSP00000490426.1:n.*56-6673_*56-6672insCGTCAAAGCCTGCACGTGGGC... | |
| ENST00000637845.1:c.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ENSP00000489638.1:n.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGG... | |
| ENST00000637969.1:c.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ENSP00000490516.1:n.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGG... | |
| ENST00000268349.7:c.98-6673_98-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ENSP00000268349.7:n.98-6673_98-6672insCGTCAAAGCCTGCACGTGGGCTT... | |
| ENST00000431610.6:c.168-6673_168-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ENSP00000415636.2:n.168-6673_168-6672insCGTCAAAGCCTGCACGTGGGC... | |
| ENST00000460382.5:c.168-6673_168-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ENSP00000417422.1:n.168-6673_168-6672insCGTCAAAGCCTGCACGTGGGC... | |
| ENST00000463855.1:c.231-6673_231-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ENSP00000417843.1:n.231-6673_231-6672insCGTCAAAGCCTGCACGTGGGC... | |
| ENST00000464071.1:c.*524-6673_*524-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ENSP00000418424.1:n.*524-6673_*524-6672insCGTCAAAGCCTGCACGTGG... | |
| ENST00000471389.5:c.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ENSP00000418823.1:n.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGG... | |
| ENST00000472835.1:n.307-6673_307-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ||
| NM_001080432.2:c.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001073901.1:n.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGGGCT... | |
| XM_011523313.1:c.1395-6673_1395-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | XP_011521615.1:n.1395-6673_1395-6672insCGTCAAAGCCTGCACGTGGGCT... | |
| NM_001363891.1:c.1395-6673_1395-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001350820.1:n.1395-6673_1395-6672insCGTCAAAGCCTGCACGTGGGCT... | |
| NM_001363894.1:c.1428-6673_1428-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001350823.1:n.1428-6673_1428-6672insCGTCAAAGCCTGCACGTGGGCT... | |
| NM_001363896.1:c.1347-6673_1347-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001350825.1:n.1347-6673_1347-6672insCGTCAAAGCCTGCACGTGGGCT... | |
| NM_001363897.1:c.1287-6673_1287-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001350826.1:n.1287-6673_1287-6672insCGTCAAAGCCTGCACGTGGGCT... | |
| NM_001363898.1:c.1251-6673_1251-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001350827.1:n.1251-6673_1251-6672insCGTCAAAGCCTGCACGTGGGCT... | |
| NM_001363899.1:c.1251-6673_1251-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001350828.1:n.1251-6673_1251-6672insCGTCAAAGCCTGCACGTGGGCT... | |
| NM_001363900.1:c.1221-6673_1221-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001350829.1:n.1221-6673_1221-6672insCGTCAAAGCCTGCACGTGGGCT... | |
| NM_001363901.1:c.1221-6673_1221-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001350830.1:n.1221-6673_1221-6672insCGTCAAAGCCTGCACGTGGGCT... | |
| NM_001363903.1:c.1240-6673_1240-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001350832.1:n.1240-6673_1240-6672insCGTCAAAGCCTGCACGTGGGCT... | |
| NM_001363905.1:c.852-6673_852-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001350834.1:n.852-6673_852-6672insCGTCAAAGCCTGCACGTGGGCTTT... | |
| NM_001363988.1:c.*23-6673_*23-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | NP_001350917.1:n.*23-6673_*23-6672insCGTCAAAGCCTGCACGTGGGCTTT... | |
| NR_156761.1:n.615-6673_615-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC | ||
| NM_001080432.3:c.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGGGCTTTCGTCAAAGAGGGTATATATAGAAGAGGTTTCACCCTCATTCTTGAAGGTTGCAACCTTCATGTTGTTTTTCTCTGCGAAGTC MANE Select | NP_001073901.1:n.1365-6673_1365-6672insCGTCAAAGCCTGCACGTGGGCT... |