Canonical Allele Identifier: CA2580066973

Gene: MSH6

Linked Data

• ClinVar Variation Id: 2038633
• ClinVar RCV Id: RCV002907669

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783319_47783320delinsCT , CM000664.2:g.47783319_47783320delinsCT	GRCh38
NC_000002.11:g.48010458_48010459delinsCT , CM000664.1:g.48010458_48010459delinsCT	GRCh37
NC_000002.10:g.47863962_47863963delinsCT	NCBI36
NG_007111.1:g.5173_5174delinsCT , LRG_219:g.5173_5174delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.86_87delinsCT	ENSP00000514752.2:p.Arg29Pro
ENST00000699999.1:n.170_171delinsCT
ENST00000700000.1:c.86_87delinsCT	ENSP00000514749.1:p.Arg29Pro
ENST00000700001.1:n.158_159delinsCT
ENST00000700002.1:c.86_87delinsCT	ENSP00000514750.1:p.Arg29Pro
ENST00000700003.1:c.86_87delinsCT	ENSP00000514751.1:p.Arg29Pro
ENST00000234420.11:c.86_87delinsCT MANE Select	ENSP00000234420.5:p.Arg29Pro
ENST00000540021.6:c.86_87delinsCT	ENSP00000446475.1:p.Arg29Pro
ENST00000652107.1:c.-37-7608_-37-7607delinsCT	ENSP00000498629.1:n.-37-7608_-37-7607delinsCT
ENST00000673637.1:c.-38+88_-38+89delinsCT	ENSP00000501310.1:n.-38+88_-38+89delinsCT
ENST00000673922.1:n.175_176delinsCT
ENST00000234420.9:c.86_87delinsCT	ENSP00000234420.4:p.Arg29Pro
ENST00000445503.5:c.86_87delinsCT	ENSP00000405294.1:p.Arg29Pro
ENST00000456246.1:c.86_87delinsCT	ENSP00000410570.1:p.Arg29Pro
ENST00000493177.1:n.150_151delinsCT
ENST00000540021.5:c.86_87delinsCT	ENSP00000446475.1:p.Arg29Pro
ENST00000606499.1:c.-37-7608_-37-7607delinsCT	ENSP00000475605.1:n.-37-7608_-37-7607delinsCT
ENST00000614496.4:c.-651_-650delinsCT	ENSP00000477844.1:n.-651_-650delinsCT
ENST00000616033.4:c.86_87delinsCT	ENSP00000480261.1:p.Arg29Pro
ENST00000622629.4:c.-3011_-3010delinsCT	ENSP00000482078.1:n.-3011_-3010delinsCT
NM_000179.2:c.86_87delinsCT , LRG_219t1:c.86_87delinsCT	NP_000170.1:p.Arg29Pro
NM_001281492.1:c.86_87delinsCT	NP_001268421.1:p.Arg29Pro
NM_001281493.1:c.-651_-650delinsCT	NP_001268422.1:n.-651_-650delinsCT
XM_011532800.1:c.-38+88_-38+89delinsCT	XP_011531102.1:n.-38+88_-38+89delinsCT
XM_024452819.1:c.86_87delinsCT	XP_024308587.1:p.Arg29Pro
XM_024452822.1:c.-651_-650delinsCT	XP_024308590.1:n.-651_-650delinsCT
NM_000179.3:c.86_87delinsCT MANE Select	NP_000170.1:p.Arg29Pro
NM_001281492.2:c.86_87delinsCT	NP_001268421.1:p.Arg29Pro
NM_001281493.2:c.-651_-650delinsCT	NP_001268422.1:n.-651_-650delinsCT