Canonical Allele Identifier: CA2695200728

Gene: MSH6

Linked Data

• ClinVar Variation Id: 2673720
• ClinVar RCV Id: RCV003450357

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783397_47783415del , CM000664.2:g.47783397_47783415del	GRCh38
NC_000002.11:g.48010536_48010554del , CM000664.1:g.48010536_48010554del	GRCh37
NC_000002.10:g.47864040_47864058del	NCBI36
NG_007111.1:g.5251_5269del , LRG_219:g.5251_5269del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.164_182del	ENSP00000514752.2:p.Pro55ArgfsTer20
ENST00000699999.1:n.248_266del
ENST00000700000.1:c.164_182del	ENSP00000514749.1:p.Pro55ArgfsTer20
ENST00000700001.1:n.236_254del
ENST00000700002.1:c.164_182del	ENSP00000514750.1:p.Pro55ArgfsTer20
ENST00000700003.1:c.164_182del	ENSP00000514751.1:p.Pro55ArgfsTer20
ENST00000234420.11:c.164_182del MANE Select	ENSP00000234420.5:p.Pro55ArgfsTer20
ENST00000540021.6:c.164_182del	ENSP00000446475.1:p.Pro55ArgfsTer20
ENST00000652107.1:c.-37-7530_-37-7512del	ENSP00000498629.1:n.-37-7530_-37-7512del
ENST00000673637.1:c.-38+166_-38+184del	ENSP00000501310.1:n.-38+166_-38+184del
ENST00000673922.1:n.253_271del
ENST00000234420.9:c.164_182del	ENSP00000234420.4:p.Pro55ArgfsTer20
ENST00000445503.5:c.164_182del	ENSP00000405294.1:p.Pro55ArgfsTer20
ENST00000456246.1:c.164_182del	ENSP00000410570.1:p.Pro55ArgfsTer20
ENST00000493177.1:n.228_246del
ENST00000540021.5:c.164_182del	ENSP00000446475.1:p.Pro55ArgfsTer20
ENST00000606499.1:c.-37-7530_-37-7512del	ENSP00000475605.1:n.-37-7530_-37-7512del
ENST00000614496.4:c.-573_-555del	ENSP00000477844.1:n.-573_-555del
ENST00000616033.4:c.162_179del
ENST00000622629.4:c.-2933_-2915del	ENSP00000482078.1:n.-2933_-2915del
NM_000179.2:c.164_182del , LRG_219t1:c.164_182del	NP_000170.1:p.Pro55ArgfsTer20
NM_001281492.1:c.164_182del	NP_001268421.1:p.Pro55ArgfsTer20
NM_001281493.1:c.-573_-555del	NP_001268422.1:n.-573_-555del
XM_011532800.1:c.-38+166_-38+184del	XP_011531102.1:n.-38+166_-38+184del
XM_024452819.1:c.164_182del	XP_024308587.1:p.Pro55ArgfsTer20
XM_024452822.1:c.-573_-555del	XP_024308590.1:n.-573_-555del
NM_000179.3:c.164_182del MANE Select	NP_000170.1:p.Pro55ArgfsTer20
NM_001281492.2:c.164_182del	NP_001268421.1:p.Pro55ArgfsTer20
NM_001281493.2:c.-573_-555del	NP_001268422.1:n.-573_-555del