Canonical Allele Identifier: CA1139771728

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799993dup , CM000664.2:g.47799993dup GRCh38
NC_000002.11:g.48027132dup , CM000664.1:g.48027132dup GRCh37
NC_000002.10:g.47880636dup NCBI36
NG_007111.1:g.21847dup , LRG_219:g.21847dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.1713dup (MSH6) ENSP00000406248.2:p.Leu572ValfsTer8
ENST00000420813.6:c.1713dup (MSH6) ENSP00000390382.2:p.Leu572ValfsTer8
ENST00000455383.6:c.1713dup (MSH6) ENSP00000397484.2:p.Leu572ValfsTer8
ENST00000700004.2:c.2010dup (MSH6) ENSP00000514752.2:p.Leu671ValfsTer8
ENST00000699999.1:n.2094dup (MSH6)
ENST00000700000.1:c.1606+404dup (MSH6) ENSP00000514749.1:n.1606+404dup
ENST00000700002.1:c.2016dup (MSH6) ENSP00000514750.1:p.Leu673ValfsTer8
ENST00000700003.1:c.628-3427dup (MSH6) ENSP00000514751.1:n.628-3427dup
ENST00000700004.1:c.1167dup (MSH6) ENSP00000514752.1:p.Leu390ValfsTer8
ENST00000234420.11:c.2010dup (MSH6) MANE Select ENSP00000234420.5:p.Leu671ValfsTer8
ENST00000540021.6:c.1620dup (MSH6) ENSP00000446475.1:p.Leu541ValfsTer8
ENST00000652107.1:c.1713dup (MSH6) ENSP00000498629.1:p.Leu572ValfsTer8
ENST00000673637.1:c.1713dup (MSH6) ENSP00000501310.1:p.Leu572ValfsTer8
ENST00000234420.9:c.2010dup (MSH6) ENSP00000234420.4:p.Leu671ValfsTer8
ENST00000405808.5:c.169+8204dup (FBXO11) ENSP00000385127.1:n.169+8204dup
ENST00000434234.5:c.*124+8003dup (FBXO11) ENSP00000402692.1:n.*124+8003dup
ENST00000445503.5:c.*1357dup (MSH6) ENSP00000405294.1:n.*1357dup
ENST00000538136.1:c.1104dup (MSH6) ENSP00000438580.1:p.Leu369ValfsTer8
ENST00000540021.5:c.1620dup (MSH6) ENSP00000446475.1:p.Leu541ValfsTer8
ENST00000614496.4:c.1104dup (MSH6) ENSP00000477844.1:p.Leu369ValfsTer8
ENST00000616033.4:c.2007dup (MSH6) ENSP00000480261.1:p.Leu670ValfsTer8
ENST00000622629.4:c.-1087dup (MSH6) ENSP00000482078.1:n.-1087dup
NM_000179.2:c.2010dup , LRG_219t1:c.2010dup (MSH6) NP_000170.1:p.Leu671ValfsTer8
NM_001281492.1:c.1620dup (MSH6) NP_001268421.1:p.Leu541ValfsTer8
NM_001281493.1:c.1104dup (MSH6) NP_001268422.1:p.Leu369ValfsTer8
NM_001281494.1:c.1104dup (MSH6) NP_001268423.1:p.Leu369ValfsTer8
XM_005264271.1:c.1713dup (MSH6) XP_005264328.1:p.Leu572ValfsTer8
XM_011532798.1:c.1827dup (MSH6) XP_011531100.1:p.Leu610ValfsTer8
XM_011532799.1:c.1713dup (MSH6) XP_011531101.1:p.Leu572ValfsTer8
XM_011532800.1:c.1713dup (MSH6) XP_011531102.1:p.Leu572ValfsTer8
XM_024452819.1:c.2010dup (MSH6) XP_024308587.1:p.Leu671ValfsTer8
XM_024452820.1:c.1827dup (MSH6) XP_024308588.1:p.Leu610ValfsTer8
XM_024452821.1:c.1713dup (MSH6) XP_024308589.1:p.Leu572ValfsTer8
XM_024452822.1:c.1104dup (MSH6) XP_024308590.1:p.Leu369ValfsTer8
NM_000179.3:c.2010dup (MSH6) MANE Select NP_000170.1:p.Leu671ValfsTer8
NM_001281492.2:c.1620dup (MSH6) NP_001268421.1:p.Leu541ValfsTer8
NM_001281493.2:c.1104dup (MSH6) NP_001268422.1:p.Leu369ValfsTer8
NM_001281494.2:c.1104dup (MSH6) NP_001268423.1:p.Leu369ValfsTer8