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.47799170_47799190delinsTCTATGTGCCTGAGGATTTCC , CM000664.2:g.47799170_47799190delinsTCTATGTGCCTGAGGATTTCC | GRCh38 |
| NC_000002.11:g.48026309_48026329delinsTCTATGTGCCTGAGGATTTCC , CM000664.1:g.48026309_48026329delinsTCTATGTGCCTGAGGATTTCC | GRCh37 |
| NC_000002.10:g.47879813_47879833delinsTCTATGTGCCTGAGGATTTCC | NCBI36 |
| NG_007111.1:g.21024_21044delinsTCTATGTGCCTGAGGATTTCC , LRG_219:g.21024_21044delinsTCTATGTGCCTGAGGATTTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.890_910delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000406248.2:p.Leu297= | |
| ENST00000420813.6:c.890_910delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000390382.2:p.Leu297= | |
| ENST00000455383.6:c.890_910delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000397484.2:p.Leu297= | |
| ENST00000700004.2:c.1187_1207delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000514752.2:p.Leu396= | |
| ENST00000699999.1:n.1271_1291delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ||
| ENST00000700000.1:c.1187_1207delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000514749.1:p.Leu396= | |
| ENST00000700002.1:c.1193_1213delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000514750.1:p.Leu398= | |
| ENST00000700003.1:c.627+3107_627+3127delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000514751.1:n.627+3107_627+3127delinsTCTATGTGCCTGAGGATT... | |
| ENST00000700004.1:c.344_364delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000514752.1:p.Leu115= | |
| ENST00000234420.11:c.1187_1207delinsTCTATGTGCCTGAGGATTTCC (MSH6) MANE Select | ENSP00000234420.5:p.Leu396= | |
| ENST00000540021.6:c.797_817delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000446475.1:p.Leu266= | |
| ENST00000652107.1:c.890_910delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000498629.1:p.Leu297= | |
| ENST00000673637.1:c.890_910delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000501310.1:p.Leu297= | |
| ENST00000234420.9:c.1187_1207delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000234420.4:p.Leu396= | |
| ENST00000405808.5:c.169+9005_169+9025delinsGGAAATCCTCAGGCACATAGA (FBXO11) | ENSP00000385127.1:n.169+9005_169+9025delinsGGAAATCCTCAGGCACAT... | |
| ENST00000434234.5:c.*124+8804_*124+8824delinsGGAAATCCTCAGGCACATAGA (FBXO11) | ENSP00000402692.1:n.*124+8804_*124+8824delinsGGAAATCCTCAGGCAC... | |
| ENST00000445503.5:c.*534_*554delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000405294.1:n.*534_*554delinsTCTATGTGCCTGAGGATTTCC | |
| ENST00000538136.1:c.281_301delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000438580.1:p.Leu94= | |
| ENST00000540021.5:c.797_817delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000446475.1:p.Leu266= | |
| ENST00000614496.4:c.281_301delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000477844.1:p.Leu94= | |
| ENST00000616033.4:c.1184_1204delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000480261.1:p.Leu395= | |
| ENST00000622629.4:c.-1910_-1890delinsTCTATGTGCCTGAGGATTTCC (MSH6) | ENSP00000482078.1:n.-1910_-1890delinsTCTATGTGCCTGAGGATTTCC | |
| NM_000179.2:c.1187_1207delinsTCTATGTGCCTGAGGATTTCC , LRG_219t1:c.1187_1207delinsTCTATGTGCCTGAGGATTTCC (MSH6) | NP_000170.1:p.Leu396= | |
| NM_001281492.1:c.797_817delinsTCTATGTGCCTGAGGATTTCC (MSH6) | NP_001268421.1:p.Leu266= | |
| NM_001281493.1:c.281_301delinsTCTATGTGCCTGAGGATTTCC (MSH6) | NP_001268422.1:p.Leu94= | |
| NM_001281494.1:c.281_301delinsTCTATGTGCCTGAGGATTTCC (MSH6) | NP_001268423.1:p.Leu94= | |
| XM_005264271.1:c.890_910delinsTCTATGTGCCTGAGGATTTCC (MSH6) | XP_005264328.1:p.Leu297= | |
| XM_011532798.1:c.1004_1024delinsTCTATGTGCCTGAGGATTTCC (MSH6) | XP_011531100.1:p.Leu335= | |
| XM_011532799.1:c.890_910delinsTCTATGTGCCTGAGGATTTCC (MSH6) | XP_011531101.1:p.Leu297= | |
| XM_011532800.1:c.890_910delinsTCTATGTGCCTGAGGATTTCC (MSH6) | XP_011531102.1:p.Leu297= | |
| XM_024452819.1:c.1187_1207delinsTCTATGTGCCTGAGGATTTCC (MSH6) | XP_024308587.1:p.Leu396= | |
| XM_024452820.1:c.1004_1024delinsTCTATGTGCCTGAGGATTTCC (MSH6) | XP_024308588.1:p.Leu335= | |
| XM_024452821.1:c.890_910delinsTCTATGTGCCTGAGGATTTCC (MSH6) | XP_024308589.1:p.Leu297= | |
| XM_024452822.1:c.281_301delinsTCTATGTGCCTGAGGATTTCC (MSH6) | XP_024308590.1:p.Leu94= | |
| NM_000179.3:c.1187_1207delinsTCTATGTGCCTGAGGATTTCC (MSH6) MANE Select | NP_000170.1:p.Leu396= | |
| NM_001281492.2:c.797_817delinsTCTATGTGCCTGAGGATTTCC (MSH6) | NP_001268421.1:p.Leu266= | |
| NM_001281493.2:c.281_301delinsTCTATGTGCCTGAGGATTTCC (MSH6) | NP_001268422.1:p.Leu94= | |
| NM_001281494.2:c.281_301delinsTCTATGTGCCTGAGGATTTCC (MSH6) | NP_001268423.1:p.Leu94= |