Canonical Allele Identifier: CA2496054577

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806826T= , CM000664.2:g.47806826T= GRCh38
NC_000002.11:g.48033965T= , CM000664.1:g.48033965T= GRCh37
NC_000002.10:g.47887469T= NCBI36
NG_007111.1:g.28680T= , LRG_219:g.28680T=
NG_008397.1:g.103850A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3752T= (MSH6) ENSP00000406248.2:p.Val1251=
ENST00000420813.6:c.3752T= (MSH6) ENSP00000390382.2:p.Val1251=
ENST00000455383.6:c.3752T= (MSH6) ENSP00000397484.2:p.Val1251=
ENST00000700004.2:c.3665T= (MSH6) ENSP00000514752.2:p.Val1222=
ENST00000699999.1:n.4723T= (MSH6)
ENST00000700000.1:c.2483T= (MSH6) ENSP00000514749.1:p.Val828=
ENST00000700002.1:c.4055T= (MSH6) ENSP00000514750.1:p.Val1352=
ENST00000700003.1:c.1504T= (MSH6) ENSP00000514751.1:n.1504T=
ENST00000700004.1:c.2822T= (MSH6) ENSP00000514752.1:p.Val941=
ENST00000700005.1:n.3027T= (MSH6)
ENST00000700007.1:n.2644T= (MSH6)
ENST00000700008.1:n.2311T= (MSH6)
ENST00000700009.1:n.2713T= (MSH6)
ENST00000700010.1:n.1458T= (MSH6)
ENST00000700011.1:n.3343T= (MSH6)
ENST00000682451.1:n.3922A= (FBXO11)
ENST00000684712.1:n.4184A= (FBXO11)
ENST00000234420.11:c.4049T= (MSH6) MANE Select ENSP00000234420.5:p.Val1350=
ENST00000540021.6:c.3659T= (MSH6) ENSP00000446475.1:p.Val1220=
ENST00000652107.1:c.3752T= (MSH6) ENSP00000498629.1:p.Val1251=
ENST00000673637.1:c.3752T= (MSH6) ENSP00000501310.1:p.Val1251=
ENST00000234420.9:c.4049T= (MSH6) ENSP00000234420.4:p.Val1350=
ENST00000405808.5:c.169+1369A= (FBXO11) ENSP00000385127.1:n.169+1369A=
ENST00000434234.5:c.*124+1168A= (FBXO11) ENSP00000402692.1:n.*124+1168A=
ENST00000445503.5:c.*3396T= (MSH6) ENSP00000405294.1:n.*3396T=
ENST00000465204.5:n.3084A= (FBXO11)
ENST00000538136.1:c.3143T= (MSH6) ENSP00000438580.1:p.Val1048=
ENST00000540021.5:c.3659T= (MSH6) ENSP00000446475.1:p.Val1220=
ENST00000614496.4:c.3143T= (MSH6) ENSP00000477844.1:p.Val1048=
ENST00000622629.4:c.950T= (MSH6) ENSP00000482078.1:p.Val317=
NM_000179.2:c.4049T= , LRG_219t1:c.4049T= (MSH6) NP_000170.1:p.Val1350=
NM_001281492.1:c.3659T= (MSH6) NP_001268421.1:p.Val1220=
NM_001281493.1:c.3143T= (MSH6) NP_001268422.1:p.Val1048=
NM_001281494.1:c.3143T= (MSH6) NP_001268423.1:p.Val1048=
XM_005264271.1:c.3752T= (MSH6) XP_005264328.1:p.Val1251=
XM_011532798.1:c.3866T= (MSH6) XP_011531100.1:p.Val1289=
XM_011532799.1:c.3752T= (MSH6) XP_011531101.1:p.Val1251=
XM_011532800.1:c.3752T= (MSH6) XP_011531102.1:p.Val1251=
XM_024452819.1:c.4142T= (MSH6) XP_024308587.1:p.Val1381=
XM_024452820.1:c.3959T= (MSH6) XP_024308588.1:p.Val1320=
XM_024452821.1:c.3845T= (MSH6) XP_024308589.1:p.Val1282=
XM_024452822.1:c.3236T= (MSH6) XP_024308590.1:p.Val1079=
NM_000179.3:c.4049T= (MSH6) MANE Select NP_000170.1:p.Val1350=
NM_001281492.2:c.3659T= (MSH6) NP_001268421.1:p.Val1220=
NM_001281493.2:c.3143T= (MSH6) NP_001268422.1:p.Val1048=
NM_001281494.2:c.3143T= (MSH6) NP_001268423.1:p.Val1048=