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.47806788_47806807delinsCCTGGCTAGTGAAAGGTCAA , CM000664.2:g.47806788_47806807delinsCCTGGCTAGTGAAAGGTCAA | GRCh38 |
| NC_000002.11:g.48033927_48033946delinsCCTGGCTAGTGAAAGGTCAA , CM000664.1:g.48033927_48033946delinsCCTGGCTAGTGAAAGGTCAA | GRCh37 |
| NC_000002.10:g.47887431_47887450delinsCCTGGCTAGTGAAAGGTCAA | NCBI36 |
| NG_007111.1:g.28642_28661delinsCCTGGCTAGTGAAAGGTCAA , LRG_219:g.28642_28661delinsCCTGGCTAGTGAAAGGTCAA | |
| NG_008397.1:g.103869_103888delinsTTGACCTTTCACTAGCCAGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3714_3733delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000406248.2:p.Cys1238= | |
| ENST00000420813.6:c.3714_3733delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000390382.2:p.Cys1238= | |
| ENST00000455383.6:c.3714_3733delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000397484.2:p.Cys1238= | |
| ENST00000700004.2:c.3627_3646delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000514752.2:p.Cys1209= | |
| ENST00000699999.1:n.4685_4704delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700000.1:c.2445_2464delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000514749.1:p.Cys815= | |
| ENST00000700002.1:c.4017_4036delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000514750.1:p.Cys1339= | |
| ENST00000700003.1:c.1466_1485delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000514751.1:n.1466_1485delinsCCTGGCTAGTGAAAGGTCAA | |
| ENST00000700004.1:c.2784_2803delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000514752.1:p.Cys928= | |
| ENST00000700005.1:n.2989_3008delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700007.1:n.2606_2625delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700008.1:n.2273_2292delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700009.1:n.2675_2694delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700010.1:n.1420_1439delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000700011.1:n.3305_3324delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ||
| ENST00000682451.1:n.3941_3960delinsTTGACCTTTCACTAGCCAGG (FBXO11) | ||
| ENST00000684712.1:n.4203_4222delinsTTGACCTTTCACTAGCCAGG (FBXO11) | ||
| ENST00000234420.11:c.4011_4030delinsCCTGGCTAGTGAAAGGTCAA (MSH6) MANE Select | ENSP00000234420.5:p.Cys1337= | |
| ENST00000540021.6:c.3621_3640delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000446475.1:p.Cys1207= | |
| ENST00000652107.1:c.3714_3733delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000498629.1:p.Cys1238= | |
| ENST00000673637.1:c.3714_3733delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000501310.1:p.Cys1238= | |
| ENST00000234420.9:c.4011_4030delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000234420.4:p.Cys1337= | |
| ENST00000405808.5:c.169+1388_169+1407delinsTTGACCTTTCACTAGCCAGG (FBXO11) | ENSP00000385127.1:n.169+1388_169+1407delinsTTGACCTTTCACTAGCCA... | |
| ENST00000434234.5:c.*124+1187_*124+1206delinsTTGACCTTTCACTAGCCAGG (FBXO11) | ENSP00000402692.1:n.*124+1187_*124+1206delinsTTGACCTTTCACTAGC... | |
| ENST00000445503.5:c.*3358_*3377delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000405294.1:n.*3358_*3377delinsCCTGGCTAGTGAAAGGTCAA | |
| ENST00000465204.5:n.3103_3122delinsTTGACCTTTCACTAGCCAGG (FBXO11) | ||
| ENST00000538136.1:c.3105_3124delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000438580.1:p.Cys1035= | |
| ENST00000540021.5:c.3621_3640delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000446475.1:p.Cys1207= | |
| ENST00000614496.4:c.3105_3124delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000477844.1:p.Cys1035= | |
| ENST00000622629.4:c.912_931delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | ENSP00000482078.1:p.Cys304= | |
| NM_000179.2:c.4011_4030delinsCCTGGCTAGTGAAAGGTCAA , LRG_219t1:c.4011_4030delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | NP_000170.1:p.Cys1337= | |
| NM_001281492.1:c.3621_3640delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | NP_001268421.1:p.Cys1207= | |
| NM_001281493.1:c.3105_3124delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | NP_001268422.1:p.Cys1035= | |
| NM_001281494.1:c.3105_3124delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | NP_001268423.1:p.Cys1035= | |
| XM_005264271.1:c.3714_3733delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | XP_005264328.1:p.Cys1238= | |
| XM_011532798.1:c.3828_3847delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | XP_011531100.1:p.Cys1276= | |
| XM_011532799.1:c.3714_3733delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | XP_011531101.1:p.Cys1238= | |
| XM_011532800.1:c.3714_3733delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | XP_011531102.1:p.Cys1238= | |
| XM_024452819.1:c.4104_4123delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | XP_024308587.1:p.Cys1368= | |
| XM_024452820.1:c.3921_3940delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | XP_024308588.1:p.Cys1307= | |
| XM_024452821.1:c.3807_3826delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | XP_024308589.1:p.Cys1269= | |
| XM_024452822.1:c.3198_3217delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | XP_024308590.1:p.Cys1066= | |
| NM_000179.3:c.4011_4030delinsCCTGGCTAGTGAAAGGTCAA (MSH6) MANE Select | NP_000170.1:p.Cys1337= | |
| NM_001281492.2:c.3621_3640delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | NP_001268421.1:p.Cys1207= | |
| NM_001281493.2:c.3105_3124delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | NP_001268422.1:p.Cys1035= | |
| NM_001281494.2:c.3105_3124delinsCCTGGCTAGTGAAAGGTCAA (MSH6) | NP_001268423.1:p.Cys1035= |