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_000002.12:g.47806148_47806160delinsCCTTTTTTGTTTT , CM000664.2:g.47806148_47806160delinsCCTTTTTTGTTTT | GRCh38 |
| NC_000002.11:g.48033287_48033299delinsCCTTTTTTGTTTT , CM000664.1:g.48033287_48033299delinsCCTTTTTTGTTTT | GRCh37 |
| NC_000002.10:g.47886791_47886803delinsCCTTTTTTGTTTT | NCBI36 |
| NG_007111.1:g.28002_28014delinsCCTTTTTTGTTTT , LRG_219:g.28002_28014delinsCCTTTTTTGTTTT | |
| NG_008397.1:g.104516_104528delinsAAAACAAAAAAGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3350-56_3350-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000406248.2:n.3350-56_3350-44delins... | |
| ENST00000420813.6:c.3350-56_3350-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000390382.2:n.3350-56_3350-44delins... | |
| ENST00000455383.6:c.3350-56_3350-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000397484.2:n.3350-56_3350-44delins... | |
| ENST00000700004.2:c.3263-56_3263-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000514752.2:n.3263-56_3263-44delins... | |
| ENST00000699999.1:n.4321-56_4321-44delinsCCTTTTTTGTTTT (MSH6) | ||
| ENST00000700000.1:c.2081-56_2081-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000514749.1:n.2081-56_2081-44delins... | |
| ENST00000700002.1:c.3653-56_3653-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000514750.1:n.3653-56_3653-44delins... | |
| ENST00000700003.1:c.1102-56_1102-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000514751.1:n.1102-56_1102-44delins... | |
| ENST00000700004.1:c.2420-56_2420-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000514752.1:n.2420-56_2420-44delins... | |
| ENST00000700005.1:n.2498-56_2498-44delinsCCTTTTTTGTTTT (MSH6) | ||
| ENST00000700006.1:n.4749_4761delinsCCTTTTTTGTTTT (MSH6) | ||
| ENST00000700007.1:n.2242-56_2242-44delinsCCTTTTTTGTTTT (MSH6) | ||
| ENST00000700008.1:n.1816-56_1816-44delinsCCTTTTTTGTTTT (MSH6) | ||
| ENST00000700009.1:n.2255_2267delinsCCTTTTTTGTTTT (MSH6) | ||
| ENST00000700010.1:n.1056-56_1056-44delinsCCTTTTTTGTTTT (MSH6) | ||
| ENST00000700011.1:n.2941-56_2941-44delinsCCTTTTTTGTTTT (MSH6) | ||
| ENST00000682451.1:n.4588_4600delinsAAAACAAAAAAGG (FBXO11) | ||
| ENST00000684712.1:n.4850_4862delinsAAAACAAAAAAGG (FBXO11) | ||
| ENST00000234420.11:c.3647-56_3647-44delinsCCTTTTTTGTTTT (MSH6) MANE Select | ENSP00000234420.5:n.3647-56_3647-44delins... | |
| ENST00000540021.6:c.3257-56_3257-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000446475.1:n.3257-56_3257-44delins... | |
| ENST00000652107.1:c.3350-56_3350-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000498629.1:n.3350-56_3350-44delins... | |
| ENST00000673637.1:c.3350-56_3350-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000501310.1:n.3350-56_3350-44delins... | |
| ENST00000234420.9:c.3647-56_3647-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000234420.4:n.3647-56_3647-44delins... | |
| ENST00000405808.5:c.169+2035_169+2047delinsAAAACAAAAAAGG (FBXO11) | ENSP00000385127.1:n.169+2035_169+2047deli... | |
| ENST00000434234.5:c.*124+1834_*124+1846delinsAAAACAAAAAAGG (FBXO11) | ENSP00000402692.1:n.*124+1834_*124+1846de... | |
| ENST00000445503.5:c.*2994-56_*2994-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000405294.1:n.*2994-56_*2994-44deli... | |
| ENST00000538136.1:c.2741-56_2741-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000438580.1:n.2741-56_2741-44delins... | |
| ENST00000540021.5:c.3257-56_3257-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000446475.1:n.3257-56_3257-44delins... | |
| ENST00000614496.4:c.2741-56_2741-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000477844.1:n.2741-56_2741-44delins... | |
| ENST00000622629.4:c.551-56_551-44delinsCCTTTTTTGTTTT (MSH6) | ENSP00000482078.1:n.551-56_551-44delinsCC... | |
| NM_000179.2:c.3647-56_3647-44delinsCCTTTTTTGTTTT , LRG_219t1:c.3647-56_3647-44delinsCCTTTTTTGTTTT (MSH6) | NP_000170.1:n.3647-56_3647-44delinsCCTTTT... | |
| NM_001281492.1:c.3257-56_3257-44delinsCCTTTTTTGTTTT (MSH6) | NP_001268421.1:n.3257-56_3257-44delinsCCT... | |
| NM_001281493.1:c.2741-56_2741-44delinsCCTTTTTTGTTTT (MSH6) | NP_001268422.1:n.2741-56_2741-44delinsCCT... | |
| NM_001281494.1:c.2741-56_2741-44delinsCCTTTTTTGTTTT (MSH6) | NP_001268423.1:n.2741-56_2741-44delinsCCT... | |
| XM_005264271.1:c.3350-56_3350-44delinsCCTTTTTTGTTTT (MSH6) | XP_005264328.1:n.3350-56_3350-44delinsCCT... | |
| XM_011532798.1:c.3464-56_3464-44delinsCCTTTTTTGTTTT (MSH6) | XP_011531100.1:n.3464-56_3464-44delinsCCT... | |
| XM_011532799.1:c.3350-56_3350-44delinsCCTTTTTTGTTTT (MSH6) | XP_011531101.1:n.3350-56_3350-44delinsCCT... | |
| XM_011532800.1:c.3350-56_3350-44delinsCCTTTTTTGTTTT (MSH6) | XP_011531102.1:n.3350-56_3350-44delinsCCT... | |
| XM_024452819.1:c.3647-56_3647-44delinsCCTTTTTTGTTTT (MSH6) | XP_024308587.1:n.3647-56_3647-44delinsCCT... | |
| XM_024452820.1:c.3464-56_3464-44delinsCCTTTTTTGTTTT (MSH6) | XP_024308588.1:n.3464-56_3464-44delinsCCT... | |
| XM_024452821.1:c.3350-56_3350-44delinsCCTTTTTTGTTTT (MSH6) | XP_024308589.1:n.3350-56_3350-44delinsCCT... | |
| XM_024452822.1:c.2741-56_2741-44delinsCCTTTTTTGTTTT (MSH6) | XP_024308590.1:n.2741-56_2741-44delinsCCT... | |
| NM_000179.3:c.3647-56_3647-44delinsCCTTTTTTGTTTT (MSH6) MANE Select | NP_000170.1:n.3647-56_3647-44delinsCCTTTT... | |
| NM_001281492.2:c.3257-56_3257-44delinsCCTTTTTTGTTTT (MSH6) | NP_001268421.1:n.3257-56_3257-44delinsCCT... | |
| NM_001281493.2:c.2741-56_2741-44delinsCCTTTTTTGTTTT (MSH6) | NP_001268422.1:n.2741-56_2741-44delinsCCT... | |
| NM_001281494.2:c.2741-56_2741-44delinsCCTTTTTTGTTTT (MSH6) | NP_001268423.1:n.2741-56_2741-44delinsCCT... |