Canonical Allele Identifier: CA891843159

Gene: MSH6

Linked Data

• ClinVar Variation Id: 577004
• ClinVar RCV Id: RCV000699652 ; RCV003453476
• dbSNP Id: rs1558645195
• MyVariant Identifiers: chr2:g.48010536_48010549del (hg19) ; chr2:g.47783397_47783410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783397_47783410del , CM000664.2:g.47783397_47783410del	GRCh38
NC_000002.11:g.48010536_48010549del , CM000664.1:g.48010536_48010549del	GRCh37
NC_000002.10:g.47864040_47864053del	NCBI36
NG_007111.1:g.5251_5264del , LRG_219:g.5251_5264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.164_177del	ENSP00000514752.2:p.Pro55LeufsTer30
ENST00000699999.1:n.248_261del
ENST00000700000.1:c.164_177del	ENSP00000514749.1:p.Pro55LeufsTer30
ENST00000700001.1:n.236_249del
ENST00000700002.1:c.164_177del	ENSP00000514750.1:p.Pro55LeufsTer30
ENST00000700003.1:c.164_177del	ENSP00000514751.1:p.Pro55LeufsTer30
ENST00000234420.11:c.164_177del MANE Select	ENSP00000234420.5:p.Pro55LeufsTer30
ENST00000540021.6:c.164_177del	ENSP00000446475.1:p.Pro55LeufsTer29
ENST00000652107.1:c.-37-7530_-37-7517del	ENSP00000498629.1:n.-37-7530_-37-7517del
ENST00000673637.1:c.-38+166_-38+179del	ENSP00000501310.1:n.-38+166_-38+179del
ENST00000673922.1:n.253_266del
ENST00000234420.9:c.164_177del	ENSP00000234420.4:p.Pro55LeufsTer30
ENST00000445503.5:c.164_177del	ENSP00000405294.1:p.Pro55LeufsTer30
ENST00000456246.1:c.164_177del	ENSP00000410570.1:p.Pro55LeufsTer?
ENST00000493177.1:n.228_241del
ENST00000540021.5:c.164_177del	ENSP00000446475.1:p.Pro55LeufsTer29
ENST00000606499.1:c.-37-7530_-37-7517del	ENSP00000475605.1:n.-37-7530_-37-7517del
ENST00000614496.4:c.-573_-560del	ENSP00000477844.1:n.-573_-560del
ENST00000616033.4:c.162_174del
ENST00000622629.4:c.-2933_-2920del	ENSP00000482078.1:n.-2933_-2920del
NM_000179.2:c.164_177del , LRG_219t1:c.164_177del	NP_000170.1:p.Pro55LeufsTer30
NM_001281492.1:c.164_177del	NP_001268421.1:p.Pro55LeufsTer29
NM_001281493.1:c.-573_-560del	NP_001268422.1:n.-573_-560del
XM_011532800.1:c.-38+166_-38+179del	XP_011531102.1:n.-38+166_-38+179del
XM_024452819.1:c.164_177del	XP_024308587.1:p.Pro55LeufsTer30
XM_024452822.1:c.-573_-560del	XP_024308590.1:n.-573_-560del
NM_000179.3:c.164_177del MANE Select	NP_000170.1:p.Pro55LeufsTer30
NM_001281492.2:c.164_177del	NP_001268421.1:p.Pro55LeufsTer29
NM_001281493.2:c.-573_-560del	NP_001268422.1:n.-573_-560del