gnomAD v3:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47801138_47801139del , CM000664.2:g.47801138_47801139del | GRCh38 |
| NC_000002.11:g.48028277_48028278del , CM000664.1:g.48028277_48028278del | GRCh37 |
| NC_000002.10:g.47881781_47881782del | NCBI36 |
| NG_007111.1:g.22992_22993del , LRG_219:g.22992_22993del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.2858_2859del (MSH6) | ENSP00000406248.2:p.Glu953ValfsTer13 | |
| ENST00000420813.6:c.2858_2859del (MSH6) | ENSP00000390382.2:p.Glu953ValfsTer13 | |
| ENST00000455383.6:c.2858_2859del (MSH6) | ENSP00000397484.2:p.Glu953ValfsTer13 | |
| ENST00000700004.2:c.3155_3156del (MSH6) | ENSP00000514752.2:p.Glu1052ValfsTer7 | |
| ENST00000699999.1:n.3239_3240del (MSH6) | ||
| ENST00000700000.1:c.1606+1549_1606+1550del (MSH6) | ENSP00000514749.1:n.1606+1549_1606+1550del | |
| ENST00000700002.1:c.3161_3162del (MSH6) | ENSP00000514750.1:p.Glu1054ValfsTer13 | |
| ENST00000700003.1:c.628-2282_628-2281del (MSH6) | ENSP00000514751.1:n.628-2282_628-2281del | |
| ENST00000700004.1:c.2312_2313del (MSH6) | ENSP00000514752.1:p.Glu771ValfsTer7 | |
| ENST00000234420.11:c.3155_3156del (MSH6) MANE Select | ENSP00000234420.5:p.Glu1052ValfsTer13 | |
| ENST00000540021.6:c.2765_2766del (MSH6) | ENSP00000446475.1:p.Glu922ValfsTer13 | |
| ENST00000652107.1:c.2858_2859del (MSH6) | ENSP00000498629.1:p.Glu953ValfsTer13 | |
| ENST00000673637.1:c.2858_2859del (MSH6) | ENSP00000501310.1:p.Glu953ValfsTer13 | |
| ENST00000234420.9:c.3155_3156del (MSH6) | ENSP00000234420.4:p.Glu1052ValfsTer13 | |
| ENST00000405808.5:c.169+7058_169+7059del (FBXO11) | ENSP00000385127.1:n.169+7058_169+7059del | |
| ENST00000434234.5:c.*124+6857_*124+6858del (FBXO11) | ENSP00000402692.1:n.*124+6857_*124+6858del | |
| ENST00000445503.5:c.*2502_*2503del (MSH6) | ENSP00000405294.1:n.*2502_*2503del | |
| ENST00000538136.1:c.2249_2250del (MSH6) | ENSP00000438580.1:p.Glu750ValfsTer13 | |
| ENST00000540021.5:c.2765_2766del (MSH6) | ENSP00000446475.1:p.Glu922ValfsTer13 | |
| ENST00000614496.4:c.2249_2250del (MSH6) | ENSP00000477844.1:p.Glu750ValfsTer13 | |
| ENST00000616033.4:c.3152_3153del (MSH6) | ENSP00000480261.1:p.Glu1051ValfsTer7 | |
| ENST00000622629.4:c.59_60del (MSH6) | ENSP00000482078.1:p.Glu20ValfsTer13 | |
| NM_000179.2:c.3155_3156del , LRG_219t1:c.3155_3156del (MSH6) | NP_000170.1:p.Glu1052ValfsTer13 | |
| NM_001281492.1:c.2765_2766del (MSH6) | NP_001268421.1:p.Glu922ValfsTer13 | |
| NM_001281493.1:c.2249_2250del (MSH6) | NP_001268422.1:p.Glu750ValfsTer13 | |
| NM_001281494.1:c.2249_2250del (MSH6) | NP_001268423.1:p.Glu750ValfsTer13 | |
| XM_005264271.1:c.2858_2859del (MSH6) | XP_005264328.1:p.Glu953ValfsTer13 | |
| XM_011532798.1:c.2972_2973del (MSH6) | XP_011531100.1:p.Glu991ValfsTer13 | |
| XM_011532799.1:c.2858_2859del (MSH6) | XP_011531101.1:p.Glu953ValfsTer13 | |
| XM_011532800.1:c.2858_2859del (MSH6) | XP_011531102.1:p.Glu953ValfsTer13 | |
| XM_024452819.1:c.3155_3156del (MSH6) | XP_024308587.1:p.Glu1052ValfsTer13 | |
| XM_024452820.1:c.2972_2973del (MSH6) | XP_024308588.1:p.Glu991ValfsTer13 | |
| XM_024452821.1:c.2858_2859del (MSH6) | XP_024308589.1:p.Glu953ValfsTer13 | |
| XM_024452822.1:c.2249_2250del (MSH6) | XP_024308590.1:p.Glu750ValfsTer13 | |
| NM_000179.3:c.3155_3156del (MSH6) MANE Select | NP_000170.1:p.Glu1052ValfsTer13 | |
| NM_001281492.2:c.2765_2766del (MSH6) | NP_001268421.1:p.Glu922ValfsTer13 | |
| NM_001281493.2:c.2249_2250del (MSH6) | NP_001268422.1:p.Glu750ValfsTer13 | |
| NM_001281494.2:c.2249_2250del (MSH6) | NP_001268423.1:p.Glu750ValfsTer13 |