Canonical Allele Identifier: CA2496054246

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806528C= , CM000664.2:g.47806528C= GRCh38
NC_000002.11:g.48033667C= , CM000664.1:g.48033667C= GRCh37
NC_000002.10:g.47887171C= NCBI36
NG_007111.1:g.28382C= , LRG_219:g.28382C=
NG_008397.1:g.104148G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3581C= (MSH6) ENSP00000406248.2:p.Ala1194=
ENST00000420813.6:c.3581C= (MSH6) ENSP00000390382.2:p.Ala1194=
ENST00000455383.6:c.3581C= (MSH6) ENSP00000397484.2:p.Ala1194=
ENST00000700004.2:c.3494C= (MSH6) ENSP00000514752.2:p.Ala1165=
ENST00000699999.1:n.4552C= (MSH6)
ENST00000700000.1:c.2312C= (MSH6) ENSP00000514749.1:p.Ala771=
ENST00000700002.1:c.3884C= (MSH6) ENSP00000514750.1:p.Ala1295=
ENST00000700003.1:c.1333C= (MSH6) ENSP00000514751.1:n.1333C=
ENST00000700004.1:c.2651C= (MSH6) ENSP00000514752.1:p.Ala884=
ENST00000700005.1:n.2729C= (MSH6)
ENST00000700006.1:n.5036C= (MSH6)
ENST00000700007.1:n.2473C= (MSH6)
ENST00000700008.1:n.2140C= (MSH6)
ENST00000700009.1:n.2542C= (MSH6)
ENST00000700010.1:n.1287C= (MSH6)
ENST00000700011.1:n.3172C= (MSH6)
ENST00000682451.1:n.4220G= (FBXO11)
ENST00000684712.1:n.4482G= (FBXO11)
ENST00000234420.11:c.3878C= (MSH6) MANE Select ENSP00000234420.5:p.Ala1293=
ENST00000540021.6:c.3488C= (MSH6) ENSP00000446475.1:p.Ala1163=
ENST00000652107.1:c.3581C= (MSH6) ENSP00000498629.1:p.Ala1194=
ENST00000673637.1:c.3581C= (MSH6) ENSP00000501310.1:p.Ala1194=
ENST00000234420.9:c.3878C= (MSH6) ENSP00000234420.4:p.Ala1293=
ENST00000405808.5:c.169+1667G= (FBXO11) ENSP00000385127.1:n.169+1667G=
ENST00000434234.5:c.*124+1466G= (FBXO11) ENSP00000402692.1:n.*124+1466G=
ENST00000445503.5:c.*3225C= (MSH6) ENSP00000405294.1:n.*3225C=
ENST00000538136.1:c.2972C= (MSH6) ENSP00000438580.1:p.Ala991=
ENST00000540021.5:c.3488C= (MSH6) ENSP00000446475.1:p.Ala1163=
ENST00000614496.4:c.2972C= (MSH6) ENSP00000477844.1:p.Ala991=
ENST00000622629.4:c.779C= (MSH6) ENSP00000482078.1:p.Ala260=
NM_000179.2:c.3878C= , LRG_219t1:c.3878C= (MSH6) NP_000170.1:p.Ala1293=
NM_001281492.1:c.3488C= (MSH6) NP_001268421.1:p.Ala1163=
NM_001281493.1:c.2972C= (MSH6) NP_001268422.1:p.Ala991=
NM_001281494.1:c.2972C= (MSH6) NP_001268423.1:p.Ala991=
XM_005264271.1:c.3581C= (MSH6) XP_005264328.1:p.Ala1194=
XM_011532798.1:c.3695C= (MSH6) XP_011531100.1:p.Ala1232=
XM_011532799.1:c.3581C= (MSH6) XP_011531101.1:p.Ala1194=
XM_011532800.1:c.3581C= (MSH6) XP_011531102.1:p.Ala1194=
XM_024452819.1:c.3971C= (MSH6) XP_024308587.1:p.Ala1324=
XM_024452820.1:c.3788C= (MSH6) XP_024308588.1:p.Ala1263=
XM_024452821.1:c.3674C= (MSH6) XP_024308589.1:p.Ala1225=
XM_024452822.1:c.3065C= (MSH6) XP_024308590.1:p.Ala1022=
NM_000179.3:c.3878C= (MSH6) MANE Select NP_000170.1:p.Ala1293=
NM_001281492.2:c.3488C= (MSH6) NP_001268421.1:p.Ala1163=
NM_001281493.2:c.2972C= (MSH6) NP_001268422.1:p.Ala991=
NM_001281494.2:c.2972C= (MSH6) NP_001268423.1:p.Ala991=