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.47806208_47806226delinsAGGTACTGCAACATTTGAT , CM000664.2:g.47806208_47806226delinsAGGTACTGCAACATTTGAT | GRCh38 |
| NC_000002.11:g.48033347_48033365delinsAGGTACTGCAACATTTGAT , CM000664.1:g.48033347_48033365delinsAGGTACTGCAACATTTGAT | GRCh37 |
| NC_000002.10:g.47886851_47886869delinsAGGTACTGCAACATTTGAT | NCBI36 |
| NG_007111.1:g.28062_28080delinsAGGTACTGCAACATTTGAT , LRG_219:g.28062_28080delinsAGGTACTGCAACATTTGAT | |
| NG_008397.1:g.104450_104468delinsATCAAATGTTGCAGTACCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3354_3372delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000406248.2:p.Arg1118= | |
| ENST00000420813.6:c.3354_3372delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000390382.2:p.Arg1118= | |
| ENST00000455383.6:c.3354_3372delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000397484.2:p.Arg1118= | |
| ENST00000700004.2:c.3267_3285delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000514752.2:p.Arg1089= | |
| ENST00000699999.1:n.4325_4343delinsAGGTACTGCAACATTTGAT (MSH6) | ||
| ENST00000700000.1:c.2085_2103delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000514749.1:p.Arg695= | |
| ENST00000700002.1:c.3657_3675delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000514750.1:p.Arg1219= | |
| ENST00000700003.1:c.1106_1124delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000514751.1:n.1106_1124delinsAGGTACTGCAACATTTGAT | |
| ENST00000700004.1:c.2424_2442delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000514752.1:p.Arg808= | |
| ENST00000700005.1:n.2502_2520delinsAGGTACTGCAACATTTGAT (MSH6) | ||
| ENST00000700006.1:n.4809_4827delinsAGGTACTGCAACATTTGAT (MSH6) | ||
| ENST00000700007.1:n.2246_2264delinsAGGTACTGCAACATTTGAT (MSH6) | ||
| ENST00000700008.1:n.1820_1838delinsAGGTACTGCAACATTTGAT (MSH6) | ||
| ENST00000700009.1:n.2315_2333delinsAGGTACTGCAACATTTGAT (MSH6) | ||
| ENST00000700010.1:n.1060_1078delinsAGGTACTGCAACATTTGAT (MSH6) | ||
| ENST00000700011.1:n.2945_2963delinsAGGTACTGCAACATTTGAT (MSH6) | ||
| ENST00000682451.1:n.4522_4540delinsATCAAATGTTGCAGTACCT (FBXO11) | ||
| ENST00000684712.1:n.4784_4802delinsATCAAATGTTGCAGTACCT (FBXO11) | ||
| ENST00000234420.11:c.3651_3669delinsAGGTACTGCAACATTTGAT (MSH6) MANE Select | ENSP00000234420.5:p.Arg1217= | |
| ENST00000540021.6:c.3261_3279delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000446475.1:p.Arg1087= | |
| ENST00000652107.1:c.3354_3372delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000498629.1:p.Arg1118= | |
| ENST00000673637.1:c.3354_3372delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000501310.1:p.Arg1118= | |
| ENST00000234420.9:c.3651_3669delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000234420.4:p.Arg1217= | |
| ENST00000405808.5:c.169+1969_169+1987delinsATCAAATGTTGCAGTACCT (FBXO11) | ENSP00000385127.1:n.169+1969_169+1987delinsATCAAATGTTGCAGTACC... | |
| ENST00000434234.5:c.*124+1768_*124+1786delinsATCAAATGTTGCAGTACCT (FBXO11) | ENSP00000402692.1:n.*124+1768_*124+1786delinsATCAAATGTTGCAGTA... | |
| ENST00000445503.5:c.*2998_*3016delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000405294.1:n.*2998_*3016delinsAGGTACTGCAACATTTGAT | |
| ENST00000538136.1:c.2745_2763delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000438580.1:p.Arg915= | |
| ENST00000540021.5:c.3261_3279delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000446475.1:p.Arg1087= | |
| ENST00000614496.4:c.2745_2763delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000477844.1:p.Arg915= | |
| ENST00000622629.4:c.555_573delinsAGGTACTGCAACATTTGAT (MSH6) | ENSP00000482078.1:p.Arg185= | |
| NM_000179.2:c.3651_3669delinsAGGTACTGCAACATTTGAT , LRG_219t1:c.3651_3669delinsAGGTACTGCAACATTTGAT (MSH6) | NP_000170.1:p.Arg1217= | |
| NM_001281492.1:c.3261_3279delinsAGGTACTGCAACATTTGAT (MSH6) | NP_001268421.1:p.Arg1087= | |
| NM_001281493.1:c.2745_2763delinsAGGTACTGCAACATTTGAT (MSH6) | NP_001268422.1:p.Arg915= | |
| NM_001281494.1:c.2745_2763delinsAGGTACTGCAACATTTGAT (MSH6) | NP_001268423.1:p.Arg915= | |
| XM_005264271.1:c.3354_3372delinsAGGTACTGCAACATTTGAT (MSH6) | XP_005264328.1:p.Arg1118= | |
| XM_011532798.1:c.3468_3486delinsAGGTACTGCAACATTTGAT (MSH6) | XP_011531100.1:p.Arg1156= | |
| XM_011532799.1:c.3354_3372delinsAGGTACTGCAACATTTGAT (MSH6) | XP_011531101.1:p.Arg1118= | |
| XM_011532800.1:c.3354_3372delinsAGGTACTGCAACATTTGAT (MSH6) | XP_011531102.1:p.Arg1118= | |
| XM_024452819.1:c.3651_3669delinsAGGTACTGCAACATTTGAT (MSH6) | XP_024308587.1:p.Arg1217= | |
| XM_024452820.1:c.3468_3486delinsAGGTACTGCAACATTTGAT (MSH6) | XP_024308588.1:p.Arg1156= | |
| XM_024452821.1:c.3354_3372delinsAGGTACTGCAACATTTGAT (MSH6) | XP_024308589.1:p.Arg1118= | |
| XM_024452822.1:c.2745_2763delinsAGGTACTGCAACATTTGAT (MSH6) | XP_024308590.1:p.Arg915= | |
| NM_000179.3:c.3651_3669delinsAGGTACTGCAACATTTGAT (MSH6) MANE Select | NP_000170.1:p.Arg1217= | |
| NM_001281492.2:c.3261_3279delinsAGGTACTGCAACATTTGAT (MSH6) | NP_001268421.1:p.Arg1087= | |
| NM_001281493.2:c.2745_2763delinsAGGTACTGCAACATTTGAT (MSH6) | NP_001268422.1:p.Arg915= | |
| NM_001281494.2:c.2745_2763delinsAGGTACTGCAACATTTGAT (MSH6) | NP_001268423.1:p.Arg915= |