Canonical Allele Identifier: CA16609276

Linked Data

ClinVar Variation Id: 393460
dbSNP Id: rs1057524912

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47791068dup , CM000664.2:g.47791068dup GRCh38
NC_000002.11:g.48018207dup , CM000664.1:g.48018207dup GRCh37
NC_000002.10:g.47871711dup NCBI36
NG_007111.1:g.12922dup , LRG_219:g.12922dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.105dup (MSH6) ENSP00000406248.2:p.Asp36Ter
ENST00000420813.6:c.105dup (MSH6) ENSP00000390382.2:p.Asp36Ter
ENST00000455383.6:c.105dup (MSH6) ENSP00000397484.2:p.Asp36Ter
ENST00000700004.2:c.402dup (MSH6) ENSP00000514752.2:p.Asp135Ter
ENST00000699999.1:n.486dup (MSH6)
ENST00000700000.1:c.402dup (MSH6) ENSP00000514749.1:p.Asp135Ter
ENST00000700001.1:n.474dup (MSH6)
ENST00000700002.1:c.402dup (MSH6) ENSP00000514750.1:p.Asp135Ter
ENST00000700003.1:c.402dup (MSH6) ENSP00000514751.1:p.Asp135Ter
ENST00000234420.11:c.402dup (MSH6) MANE Select ENSP00000234420.5:p.Asp135Ter
ENST00000540021.6:c.238-7543dup (MSH6) ENSP00000446475.1:n.238-7543dup
ENST00000652107.1:c.105dup (MSH6) ENSP00000498629.1:p.Asp36Ter
ENST00000673637.1:c.105dup (MSH6) ENSP00000501310.1:p.Asp36Ter
ENST00000673922.1:n.350-7543dup (MSH6)
ENST00000234420.9:c.402dup (MSH6) ENSP00000234420.4:p.Asp135Ter
ENST00000405808.5:c.170-1623dup (FBXO11) ENSP00000385127.1:n.170-1623dup
ENST00000411819.1:c.105dup (MSH6) ENSP00000406248.1:p.Asp36Ter
ENST00000420813.5:c.105dup (MSH6) ENSP00000390382.1:p.Asp36Ter
ENST00000434234.5:c.*125-1623dup (FBXO11) ENSP00000402692.1:n.*125-1623dup
ENST00000445503.5:c.402dup (MSH6) ENSP00000405294.1:p.Asp135Ter
ENST00000455383.5:c.105dup (MSH6) ENSP00000397484.1:p.Asp36Ter
ENST00000456246.1:c.261-4826dup (MSH6) ENSP00000410570.1:n.261-4826dup
ENST00000538136.1:c.-501dup (MSH6) ENSP00000438580.1:n.-501dup
ENST00000540021.5:c.238-7543dup (MSH6) ENSP00000446475.1:n.238-7543dup
ENST00000606499.1:c.105dup (MSH6) ENSP00000475605.1:p.Asp36Ter
ENST00000614496.4:c.-335dup (MSH6) ENSP00000477844.1:n.-335dup
ENST00000616033.4:c.399dup (MSH6) ENSP00000480261.1:p.Asp134Ter
ENST00000622629.4:c.-2695dup (MSH6) ENSP00000482078.1:n.-2695dup
NM_000179.2:c.402dup , LRG_219t1:c.402dup (MSH6) NP_000170.1:p.Asp135Ter
NM_001281492.1:c.238-7543dup (MSH6) NP_001268421.1:n.238-7543dup
NM_001281493.1:c.-335dup (MSH6) NP_001268422.1:n.-335dup
NM_001281494.1:c.-501dup (MSH6) NP_001268423.1:n.-501dup
XM_005264271.1:c.105dup (MSH6) XP_005264328.1:p.Asp36Ter
XM_011532798.1:c.219dup (MSH6) XP_011531100.1:p.Asp74Ter
XM_011532799.1:c.105dup (MSH6) XP_011531101.1:p.Asp36Ter
XM_011532800.1:c.105dup (MSH6) XP_011531102.1:p.Asp36Ter
XM_024452819.1:c.402dup (MSH6) XP_024308587.1:p.Asp135Ter
XM_024452820.1:c.219dup (MSH6) XP_024308588.1:p.Asp74Ter
XM_024452821.1:c.105dup (MSH6) XP_024308589.1:p.Asp36Ter
XM_024452822.1:c.-335dup (MSH6) XP_024308590.1:n.-335dup
NM_000179.3:c.402dup (MSH6) MANE Select NP_000170.1:p.Asp135Ter
NM_001281492.2:c.238-7543dup (MSH6) NP_001268421.1:n.238-7543dup
NM_001281493.2:c.-335dup (MSH6) NP_001268422.1:n.-335dup
NM_001281494.2:c.-501dup (MSH6) NP_001268423.1:n.-501dup