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.47806792_47806807delinsGCTAGTGAAAGGTCAA , CM000664.2:g.47806792_47806807delinsGCTAGTGAAAGGTCAA | GRCh38 |
| NC_000002.11:g.48033931_48033946delinsGCTAGTGAAAGGTCAA , CM000664.1:g.48033931_48033946delinsGCTAGTGAAAGGTCAA | GRCh37 |
| NC_000002.10:g.47887435_47887450delinsGCTAGTGAAAGGTCAA | NCBI36 |
| NG_007111.1:g.28646_28661delinsGCTAGTGAAAGGTCAA , LRG_219:g.28646_28661delinsGCTAGTGAAAGGTCAA | |
| NG_008397.1:g.103869_103884delinsTTGACCTTTCACTAGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3718_3733delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000406248.2:p.Ala1240= | |
| ENST00000420813.6:c.3718_3733delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000390382.2:p.Ala1240= | |
| ENST00000455383.6:c.3718_3733delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000397484.2:p.Ala1240= | |
| ENST00000700004.2:c.3631_3646delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000514752.2:p.Ala1211= | |
| ENST00000699999.1:n.4689_4704delinsGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700000.1:c.2449_2464delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000514749.1:p.Ala817= | |
| ENST00000700002.1:c.4021_4036delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000514750.1:p.Ala1341= | |
| ENST00000700003.1:c.1470_1485delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000514751.1:n.1470_1485delinsGCTAGTGAAAGGTCAA | |
| ENST00000700004.1:c.2788_2803delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000514752.1:p.Ala930= | |
| ENST00000700005.1:n.2993_3008delinsGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700007.1:n.2610_2625delinsGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700008.1:n.2277_2292delinsGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700009.1:n.2679_2694delinsGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700010.1:n.1424_1439delinsGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700011.1:n.3309_3324delinsGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000682451.1:n.3941_3956delinsTTGACCTTTCACTAGC (FBXO11) | ||
| ENST00000684712.1:n.4203_4218delinsTTGACCTTTCACTAGC (FBXO11) | ||
| ENST00000234420.11:c.4015_4030delinsGCTAGTGAAAGGTCAA (MSH6) MANE Select | ENSP00000234420.5:p.Ala1339= | |
| ENST00000540021.6:c.3625_3640delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000446475.1:p.Ala1209= | |
| ENST00000652107.1:c.3718_3733delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000498629.1:p.Ala1240= | |
| ENST00000673637.1:c.3718_3733delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000501310.1:p.Ala1240= | |
| ENST00000234420.9:c.4015_4030delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000234420.4:p.Ala1339= | |
| ENST00000405808.5:c.169+1388_169+1403delinsTTGACCTTTCACTAGC (FBXO11) | ENSP00000385127.1:n.169+1388_169+1403delinsTTGACCTTTCACTAGC | |
| ENST00000434234.5:c.*124+1187_*124+1202delinsTTGACCTTTCACTAGC (FBXO11) | ENSP00000402692.1:n.*124+1187_*124+1202delinsTTGACCTTTCACTAGC... | |
| ENST00000445503.5:c.*3362_*3377delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000405294.1:n.*3362_*3377delinsGCTAGTGAAAGGTCAA | |
| ENST00000465204.5:n.3103_3118delinsTTGACCTTTCACTAGC (FBXO11) | ||
| ENST00000538136.1:c.3109_3124delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000438580.1:p.Ala1037= | |
| ENST00000540021.5:c.3625_3640delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000446475.1:p.Ala1209= | |
| ENST00000614496.4:c.3109_3124delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000477844.1:p.Ala1037= | |
| ENST00000622629.4:c.916_931delinsGCTAGTGAAAGGTCAA (MSH6) | ENSP00000482078.1:p.Ala306= | |
| NM_000179.2:c.4015_4030delinsGCTAGTGAAAGGTCAA , LRG_219t1:c.4015_4030delinsGCTAGTGAAAGGTCAA (MSH6) | NP_000170.1:p.Ala1339= | |
| NM_001281492.1:c.3625_3640delinsGCTAGTGAAAGGTCAA (MSH6) | NP_001268421.1:p.Ala1209= | |
| NM_001281493.1:c.3109_3124delinsGCTAGTGAAAGGTCAA (MSH6) | NP_001268422.1:p.Ala1037= | |
| NM_001281494.1:c.3109_3124delinsGCTAGTGAAAGGTCAA (MSH6) | NP_001268423.1:p.Ala1037= | |
| XM_005264271.1:c.3718_3733delinsGCTAGTGAAAGGTCAA (MSH6) | XP_005264328.1:p.Ala1240= | |
| XM_011532798.1:c.3832_3847delinsGCTAGTGAAAGGTCAA (MSH6) | XP_011531100.1:p.Ala1278= | |
| XM_011532799.1:c.3718_3733delinsGCTAGTGAAAGGTCAA (MSH6) | XP_011531101.1:p.Ala1240= | |
| XM_011532800.1:c.3718_3733delinsGCTAGTGAAAGGTCAA (MSH6) | XP_011531102.1:p.Ala1240= | |
| XM_024452819.1:c.4108_4123delinsGCTAGTGAAAGGTCAA (MSH6) | XP_024308587.1:p.Ala1370= | |
| XM_024452820.1:c.3925_3940delinsGCTAGTGAAAGGTCAA (MSH6) | XP_024308588.1:p.Ala1309= | |
| XM_024452821.1:c.3811_3826delinsGCTAGTGAAAGGTCAA (MSH6) | XP_024308589.1:p.Ala1271= | |
| XM_024452822.1:c.3202_3217delinsGCTAGTGAAAGGTCAA (MSH6) | XP_024308590.1:p.Ala1068= | |
| NM_000179.3:c.4015_4030delinsGCTAGTGAAAGGTCAA (MSH6) MANE Select | NP_000170.1:p.Ala1339= | |
| NM_001281492.2:c.3625_3640delinsGCTAGTGAAAGGTCAA (MSH6) | NP_001268421.1:p.Ala1209= | |
| NM_001281493.2:c.3109_3124delinsGCTAGTGAAAGGTCAA (MSH6) | NP_001268422.1:p.Ala1037= | |
| NM_001281494.2:c.3109_3124delinsGCTAGTGAAAGGTCAA (MSH6) | NP_001268423.1:p.Ala1037= |