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.47806343_47806352delinsGCGCCTAGGA , CM000664.2:g.47806343_47806352delinsGCGCCTAGGA | GRCh38 |
| NC_000002.11:g.48033482_48033491delinsGCGCCTAGGA , CM000664.1:g.48033482_48033491delinsGCGCCTAGGA | GRCh37 |
| NC_000002.10:g.47886986_47886995delinsGCGCCTAGGA | NCBI36 |
| NG_007111.1:g.28197_28206delinsGCGCCTAGGA , LRG_219:g.28197_28206delinsGCGCCTAGGA | |
| NG_008397.1:g.104324_104333delinsTCCTAGGCGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3489_3498delinsGCGCCTAGGA (MSH6) | ENSP00000406248.2:p.Val1163= | |
| ENST00000420813.6:c.3489_3498delinsGCGCCTAGGA (MSH6) | ENSP00000390382.2:p.Val1163= | |
| ENST00000455383.6:c.3489_3498delinsGCGCCTAGGA (MSH6) | ENSP00000397484.2:p.Val1163= | |
| ENST00000700004.2:c.3402_3411delinsGCGCCTAGGA (MSH6) | ENSP00000514752.2:p.Val1134= | |
| ENST00000699999.1:n.4460_4469delinsGCGCCTAGGA (MSH6) | ||
| ENST00000700000.1:c.2220_2229delinsGCGCCTAGGA (MSH6) | ENSP00000514749.1:p.Val740= | |
| ENST00000700002.1:c.3792_3801delinsGCGCCTAGGA (MSH6) | ENSP00000514750.1:p.Val1264= | |
| ENST00000700003.1:c.1241_1250delinsGCGCCTAGGA (MSH6) | ENSP00000514751.1:n.1241_1250delinsGCGCCT... | |
| ENST00000700004.1:c.2559_2568delinsGCGCCTAGGA (MSH6) | ENSP00000514752.1:p.Val853= | |
| ENST00000700005.1:n.2637_2646delinsGCGCCTAGGA (MSH6) | ||
| ENST00000700006.1:n.4944_4953delinsGCGCCTAGGA (MSH6) | ||
| ENST00000700007.1:n.2381_2390delinsGCGCCTAGGA (MSH6) | ||
| ENST00000700008.1:n.1955_1964delinsGCGCCTAGGA (MSH6) | ||
| ENST00000700009.1:n.2450_2459delinsGCGCCTAGGA (MSH6) | ||
| ENST00000700010.1:n.1195_1204delinsGCGCCTAGGA (MSH6) | ||
| ENST00000700011.1:n.3080_3089delinsGCGCCTAGGA (MSH6) | ||
| ENST00000682451.1:n.4396_4405delinsTCCTAGGCGC (FBXO11) | ||
| ENST00000684712.1:n.4658_4667delinsTCCTAGGCGC (FBXO11) | ||
| ENST00000234420.11:c.3786_3795delinsGCGCCTAGGA (MSH6) MANE Select | ENSP00000234420.5:p.Val1262= | |
| ENST00000540021.6:c.3396_3405delinsGCGCCTAGGA (MSH6) | ENSP00000446475.1:p.Val1132= | |
| ENST00000652107.1:c.3489_3498delinsGCGCCTAGGA (MSH6) | ENSP00000498629.1:p.Val1163= | |
| ENST00000673637.1:c.3489_3498delinsGCGCCTAGGA (MSH6) | ENSP00000501310.1:p.Val1163= | |
| ENST00000234420.9:c.3786_3795delinsGCGCCTAGGA (MSH6) | ENSP00000234420.4:p.Val1262= | |
| ENST00000405808.5:c.169+1843_169+1852delinsTCCTAGGCGC (FBXO11) | ENSP00000385127.1:n.169+1843_169+1852deli... | |
| ENST00000434234.5:c.*124+1642_*124+1651delinsTCCTAGGCGC (FBXO11) | ENSP00000402692.1:n.*124+1642_*124+1651de... | |
| ENST00000445503.5:c.*3133_*3142delinsGCGCCTAGGA (MSH6) | ENSP00000405294.1:n.*3133_*3142delinsGCGC... | |
| ENST00000538136.1:c.2880_2889delinsGCGCCTAGGA (MSH6) | ENSP00000438580.1:p.Val960= | |
| ENST00000540021.5:c.3396_3405delinsGCGCCTAGGA (MSH6) | ENSP00000446475.1:p.Val1132= | |
| ENST00000614496.4:c.2880_2889delinsGCGCCTAGGA (MSH6) | ENSP00000477844.1:p.Val960= | |
| ENST00000622629.4:c.688_696delinsGCGCCTAGGA (MSH6) | ||
| NM_000179.2:c.3786_3795delinsGCGCCTAGGA , LRG_219t1:c.3786_3795delinsGCGCCTAGGA (MSH6) | NP_000170.1:p.Val1262= | |
| NM_001281492.1:c.3396_3405delinsGCGCCTAGGA (MSH6) | NP_001268421.1:p.Val1132= | |
| NM_001281493.1:c.2880_2889delinsGCGCCTAGGA (MSH6) | NP_001268422.1:p.Val960= | |
| NM_001281494.1:c.2880_2889delinsGCGCCTAGGA (MSH6) | NP_001268423.1:p.Val960= | |
| XM_005264271.1:c.3489_3498delinsGCGCCTAGGA (MSH6) | XP_005264328.1:p.Val1163= | |
| XM_011532798.1:c.3603_3612delinsGCGCCTAGGA (MSH6) | XP_011531100.1:p.Val1201= | |
| XM_011532799.1:c.3489_3498delinsGCGCCTAGGA (MSH6) | XP_011531101.1:p.Val1163= | |
| XM_011532800.1:c.3489_3498delinsGCGCCTAGGA (MSH6) | XP_011531102.1:p.Val1163= | |
| XM_024452819.1:c.3786_3795delinsGCGCCTAGGA (MSH6) | XP_024308587.1:p.Val1262= | |
| XM_024452820.1:c.3603_3612delinsGCGCCTAGGA (MSH6) | XP_024308588.1:p.Val1201= | |
| XM_024452821.1:c.3489_3498delinsGCGCCTAGGA (MSH6) | XP_024308589.1:p.Val1163= | |
| XM_024452822.1:c.2880_2889delinsGCGCCTAGGA (MSH6) | XP_024308590.1:p.Val960= | |
| NM_000179.3:c.3786_3795delinsGCGCCTAGGA (MSH6) MANE Select | NP_000170.1:p.Val1262= | |
| NM_001281492.2:c.3396_3405delinsGCGCCTAGGA (MSH6) | NP_001268421.1:p.Val1132= | |
| NM_001281493.2:c.2880_2889delinsGCGCCTAGGA (MSH6) | NP_001268422.1:p.Val960= | |
| NM_001281494.2:c.2880_2889delinsGCGCCTAGGA (MSH6) | NP_001268423.1:p.Val960= |