Canonical Allele Identifier: CA2499306157

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.[47805662C>G;47806281C>A] , CM000664.2:g.[47805662C>G;47806281C>A] GRCh38
NC_000002.11:g.[48032801C>G;48033420C>A] , CM000664.1:g.[48032801C>G;48033420C>A] GRCh37
NC_000002.10:g.[47886305C>G;47886924C>A] NCBI36
NG_007111.1:g.[27516C>G;28135C>A] , LRG_219:g.[27516C>G;28135C>A]
NG_008397.1:g.[104395G>T;105014G>C]

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.[3304C>G;3427C>A] (MSH6) ENSP00000406248.2:p.[Leu1102Val;Arg1143Ser]
ENST00000420813.6:c.[3304C>G;3427C>A] (MSH6) ENSP00000390382.2:p.[Leu1102Val;Arg1143Ser]
ENST00000455383.6:c.[3304C>G;3427C>A] (MSH6) ENSP00000397484.2:p.[Leu1102Val;Arg1143Ser]
ENST00000700004.2:c.[3217C>G;3340C>A] (MSH6) ENSP00000514752.2:p.[Leu1073Val;Arg1114Ser]
ENST00000699999.1:n.[4275C>G;4398C>A] (MSH6)
ENST00000700000.1:c.[2035C>G;2158C>A] (MSH6) ENSP00000514749.1:p.[Leu679Val;Arg720Ser]
ENST00000700002.1:c.[3607C>G;3730C>A] (MSH6) ENSP00000514750.1:p.[Leu1203Val;Arg1244Ser]
ENST00000700003.1:c.[1056C>G;1179C>A] (MSH6) ENSP00000514751.1:n.[1056C>G;1179C>A]
ENST00000700004.1:c.[2374C>G;2497C>A] (MSH6) ENSP00000514752.1:p.[Leu792Val;Arg833Ser]
ENST00000700005.1:n.[2452C>G;2575C>A] (MSH6)
ENST00000700006.1:n.[4263C>G;4882C>A] (MSH6)
ENST00000700007.1:n.[2196C>G;2319C>A] (MSH6)
ENST00000700008.1:n.[1770C>G;1893C>A] (MSH6)
ENST00000700009.1:n.[1769C>G;2388C>A] (MSH6)
ENST00000700010.1:n.[1010C>G;1133C>A] (MSH6)
ENST00000700011.1:n.[2895C>G;3018C>A] (MSH6)
ENST00000234420.11:c.[3601C>G;3724C>A] (MSH6) MANE Select ENSP00000234420.5:p.[Leu1201Val;Arg1242Ser]
ENST00000540021.6:c.[3211C>G;3334C>A] (MSH6) ENSP00000446475.1:p.[Leu1071Val;Arg1112Ser]
ENST00000652107.1:c.[3304C>G;3427C>A] (MSH6) ENSP00000498629.1:p.[Leu1102Val;Arg1143Ser]
ENST00000673637.1:c.[3304C>G;3427C>A] (MSH6) ENSP00000501310.1:p.[Leu1102Val;Arg1143Ser]
ENST00000234420.9:c.[3601C>G;3724C>A] (MSH6) ENSP00000234420.4:p.[Leu1201Val;Arg1242Ser]
ENST00000405808.5:c.[169+1914G>T;169+2533G>C] (FBXO11) ENSP00000385127.1:n.[169+1914G>T;169+2533G>C]
ENST00000434234.5:c.[*124+1713G>T;*124+2332G>C] (FBXO11) ENSP00000402692.1:n.[*124+1713G>T;*124+2332G>C]
ENST00000445503.5:c.[*2948C>G;*3071C>A] (MSH6) ENSP00000405294.1:n.[*2948C>G;*3071C>A]
ENST00000538136.1:c.[2695C>G;2818C>A] (MSH6) ENSP00000438580.1:p.[Leu899Val;Arg940Ser]
ENST00000540021.5:c.[3211C>G;3334C>A] (MSH6) ENSP00000446475.1:p.[Leu1071Val;Arg1112Ser]
ENST00000614496.4:c.[2695C>G;2818C>A] (MSH6) ENSP00000477844.1:p.[Leu899Val;Arg940Ser]
ENST00000622629.4:c.[505C>G;628C>A] (MSH6) ENSP00000482078.1:p.[Leu169Val;Arg210Ser]
NM_000179.2:c.[3601C>G;3724C>A] , LRG_219t1:c.[3601C>G;3724C>A] (MSH6) NP_000170.1:p.[Leu1201Val;Arg1242Ser]
NM_001281492.1:c.[3211C>G;3334C>A] (MSH6) NP_001268421.1:p.[Leu1071Val;Arg1112Ser]
NM_001281493.1:c.[2695C>G;2818C>A] (MSH6) NP_001268422.1:p.[Leu899Val;Arg940Ser]
NM_001281494.1:c.[2695C>G;2818C>A] (MSH6) NP_001268423.1:p.[Leu899Val;Arg940Ser]
XM_005264271.1:c.[3304C>G;3427C>A] (MSH6) XP_005264328.1:p.[Leu1102Val;Arg1143Ser]
XM_011532798.1:c.[3418C>G;3541C>A] (MSH6) XP_011531100.1:p.[Leu1140Val;Arg1181Ser]
XM_011532799.1:c.[3304C>G;3427C>A] (MSH6) XP_011531101.1:p.[Leu1102Val;Arg1143Ser]
XM_011532800.1:c.[3304C>G;3427C>A] (MSH6) XP_011531102.1:p.[Leu1102Val;Arg1143Ser]
XM_024452819.1:c.[3601C>G;3724C>A] (MSH6) XP_024308587.1:p.[Leu1201Val;Arg1242Ser]
XM_024452820.1:c.[3418C>G;3541C>A] (MSH6) XP_024308588.1:p.[Leu1140Val;Arg1181Ser]
XM_024452821.1:c.[3304C>G;3427C>A] (MSH6) XP_024308589.1:p.[Leu1102Val;Arg1143Ser]
XM_024452822.1:c.[2695C>G;2818C>A] (MSH6) XP_024308590.1:p.[Leu899Val;Arg940Ser]
NM_000179.3:c.[3601C>G;3724C>A] (MSH6) MANE Select NP_000170.1:p.[Leu1201Val;Arg1242Ser]
NM_001281492.2:c.[3211C>G;3334C>A] (MSH6) NP_001268421.1:p.[Leu1071Val;Arg1112Ser]
NM_001281493.2:c.[2695C>G;2818C>A] (MSH6) NP_001268422.1:p.[Leu899Val;Arg940Ser]
NM_001281494.2:c.[2695C>G;2818C>A] (MSH6) NP_001268423.1:p.[Leu899Val;Arg940Ser]