Canonical Allele Identifier: CA068161

Gene: MSH6

Linked Data

• ClinVar Variation Id: 1781305
• ClinVar RCV Id: RCV002412992 ; RCV003465743
• dbSNP Id: rs775928689
• ExAC: 2:48010552 GGC / G
• gnomAD v4: 2-47783413-GGC-G
• MyVariant Identifiers: chr2:g.48010553_48010554del (hg19) ; chr2:g.47783414_47783415del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783418_47783419del , CM000664.2:g.47783418_47783419del	GRCh38
NC_000002.11:g.48010557_48010558del , CM000664.1:g.48010557_48010558del	GRCh37
NC_000002.10:g.47864061_47864062del	NCBI36
NG_007111.1:g.5272_5273del , LRG_219:g.5272_5273del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.185_186del	ENSP00000514752.2:p.Arg62LeufsTer27
ENST00000699999.1:n.269_270del
ENST00000700000.1:c.185_186del	ENSP00000514749.1:p.Arg62LeufsTer27
ENST00000700001.1:n.257_258del
ENST00000700002.1:c.185_186del	ENSP00000514750.1:p.Arg62LeufsTer27
ENST00000700003.1:c.185_186del	ENSP00000514751.1:p.Arg62LeufsTer27
ENST00000234420.11:c.185_186del MANE Select	ENSP00000234420.5:p.Arg62LeufsTer27
ENST00000540021.6:c.185_186del	ENSP00000446475.1:p.Arg62LeufsTer26
ENST00000652107.1:c.-37-7509_-37-7508del	ENSP00000498629.1:n.-37-7509_-37-7508del
ENST00000673637.1:c.-38+187_-38+188del	ENSP00000501310.1:n.-38+187_-38+188del
ENST00000673922.1:n.274_275del
ENST00000234420.9:c.185_186del	ENSP00000234420.4:p.Arg62LeufsTer27
ENST00000445503.5:c.185_186del	ENSP00000405294.1:p.Arg62LeufsTer27
ENST00000456246.1:c.185_186del	ENSP00000410570.1:p.Arg62LeufsTer?
ENST00000493177.1:n.249_250del
ENST00000540021.5:c.185_186del	ENSP00000446475.1:p.Arg62LeufsTer26
ENST00000606499.1:c.-37-7509_-37-7508del	ENSP00000475605.1:n.-37-7509_-37-7508del
ENST00000614496.4:c.-552_-551del	ENSP00000477844.1:n.-552_-551del
ENST00000616033.4:c.182_183del	ENSP00000480261.1:p.Arg61LeufsTer27
ENST00000622629.4:c.-2912_-2911del	ENSP00000482078.1:n.-2912_-2911del
NM_000179.2:c.185_186del , LRG_219t1:c.185_186del	NP_000170.1:p.Arg62LeufsTer27
NM_001281492.1:c.185_186del	NP_001268421.1:p.Arg62LeufsTer26
NM_001281493.1:c.-552_-551del	NP_001268422.1:n.-552_-551del
XM_011532800.1:c.-38+187_-38+188del	XP_011531102.1:n.-38+187_-38+188del
XM_024452819.1:c.185_186del	XP_024308587.1:p.Arg62LeufsTer27
XM_024452822.1:c.-552_-551del	XP_024308590.1:n.-552_-551del
NM_000179.3:c.185_186del MANE Select	NP_000170.1:p.Arg62LeufsTer27
NM_001281492.2:c.185_186del	NP_001268421.1:p.Arg62LeufsTer26
NM_001281493.2:c.-552_-551del	NP_001268422.1:n.-552_-551del