Canonical Allele Identifier: CA2496054570

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806817C= , CM000664.2:g.47806817C= GRCh38
NC_000002.11:g.48033956C= , CM000664.1:g.48033956C= GRCh37
NC_000002.10:g.47887460C= NCBI36
NG_007111.1:g.28671C= , LRG_219:g.28671C=
NG_008397.1:g.103859G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3743C= (MSH6) ENSP00000406248.2:p.Ala1248=
ENST00000420813.6:c.3743C= (MSH6) ENSP00000390382.2:p.Ala1248=
ENST00000455383.6:c.3743C= (MSH6) ENSP00000397484.2:p.Ala1248=
ENST00000700004.2:c.3656C= (MSH6) ENSP00000514752.2:p.Ala1219=
ENST00000699999.1:n.4714C= (MSH6)
ENST00000700000.1:c.2474C= (MSH6) ENSP00000514749.1:p.Ala825=
ENST00000700002.1:c.4046C= (MSH6) ENSP00000514750.1:p.Ala1349=
ENST00000700003.1:c.1495C= (MSH6) ENSP00000514751.1:n.1495C=
ENST00000700004.1:c.2813C= (MSH6) ENSP00000514752.1:p.Ala938=
ENST00000700005.1:n.3018C= (MSH6)
ENST00000700007.1:n.2635C= (MSH6)
ENST00000700008.1:n.2302C= (MSH6)
ENST00000700009.1:n.2704C= (MSH6)
ENST00000700010.1:n.1449C= (MSH6)
ENST00000700011.1:n.3334C= (MSH6)
ENST00000682451.1:n.3931G= (FBXO11)
ENST00000684712.1:n.4193G= (FBXO11)
ENST00000234420.11:c.4040C= (MSH6) MANE Select ENSP00000234420.5:p.Ala1347=
ENST00000540021.6:c.3650C= (MSH6) ENSP00000446475.1:p.Ala1217=
ENST00000652107.1:c.3743C= (MSH6) ENSP00000498629.1:p.Ala1248=
ENST00000673637.1:c.3743C= (MSH6) ENSP00000501310.1:p.Ala1248=
ENST00000234420.9:c.4040C= (MSH6) ENSP00000234420.4:p.Ala1347=
ENST00000405808.5:c.169+1378G= (FBXO11) ENSP00000385127.1:n.169+1378G=
ENST00000434234.5:c.*124+1177G= (FBXO11) ENSP00000402692.1:n.*124+1177G=
ENST00000445503.5:c.*3387C= (MSH6) ENSP00000405294.1:n.*3387C=
ENST00000465204.5:n.3093G= (FBXO11)
ENST00000538136.1:c.3134C= (MSH6) ENSP00000438580.1:p.Ala1045=
ENST00000540021.5:c.3650C= (MSH6) ENSP00000446475.1:p.Ala1217=
ENST00000614496.4:c.3134C= (MSH6) ENSP00000477844.1:p.Ala1045=
ENST00000622629.4:c.941C= (MSH6) ENSP00000482078.1:p.Ala314=
NM_000179.2:c.4040C= , LRG_219t1:c.4040C= (MSH6) NP_000170.1:p.Ala1347=
NM_001281492.1:c.3650C= (MSH6) NP_001268421.1:p.Ala1217=
NM_001281493.1:c.3134C= (MSH6) NP_001268422.1:p.Ala1045=
NM_001281494.1:c.3134C= (MSH6) NP_001268423.1:p.Ala1045=
XM_005264271.1:c.3743C= (MSH6) XP_005264328.1:p.Ala1248=
XM_011532798.1:c.3857C= (MSH6) XP_011531100.1:p.Ala1286=
XM_011532799.1:c.3743C= (MSH6) XP_011531101.1:p.Ala1248=
XM_011532800.1:c.3743C= (MSH6) XP_011531102.1:p.Ala1248=
XM_024452819.1:c.4133C= (MSH6) XP_024308587.1:p.Ala1378=
XM_024452820.1:c.3950C= (MSH6) XP_024308588.1:p.Ala1317=
XM_024452821.1:c.3836C= (MSH6) XP_024308589.1:p.Ala1279=
XM_024452822.1:c.3227C= (MSH6) XP_024308590.1:p.Ala1076=
NM_000179.3:c.4040C= (MSH6) MANE Select NP_000170.1:p.Ala1347=
NM_001281492.2:c.3650C= (MSH6) NP_001268421.1:p.Ala1217=
NM_001281493.2:c.3134C= (MSH6) NP_001268422.1:p.Ala1045=
NM_001281494.2:c.3134C= (MSH6) NP_001268423.1:p.Ala1045=