Canonical Allele Identifier: CA2580066975

Gene: MSH6

Linked Data

• ClinVar Variation Id: 1764733
• ClinVar RCV Id: RCV002449792

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783321_47783333del , CM000664.2:g.47783321_47783333del	GRCh38
NC_000002.11:g.48010460_48010472del , CM000664.1:g.48010460_48010472del	GRCh37
NC_000002.10:g.47863964_47863976del	NCBI36
NG_007111.1:g.5175_5187del , LRG_219:g.5175_5187del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.88_100del	ENSP00000514752.2:p.Glu30ProfsTer?
ENST00000699999.1:n.172_184del
ENST00000700000.1:c.88_100del	ENSP00000514749.1:p.Glu30ProfsTer?
ENST00000700001.1:n.160_172del
ENST00000700002.1:c.88_100del	ENSP00000514750.1:p.Glu30ProfsTer?
ENST00000700003.1:c.88_100del	ENSP00000514751.1:p.Glu30ProfsTer?
ENST00000234420.11:c.88_100del MANE Select	ENSP00000234420.5:p.Glu30ProfsTer?
ENST00000540021.6:c.88_100del	ENSP00000446475.1:p.Glu30ProfsTer?
ENST00000652107.1:c.-37-7606_-37-7594del	ENSP00000498629.1:n.-37-7606_-37-7594del
ENST00000673637.1:c.-38+90_-38+102del	ENSP00000501310.1:n.-38+90_-38+102del
ENST00000673922.1:n.177_189del
ENST00000234420.9:c.88_100del	ENSP00000234420.4:p.Glu30ProfsTer?
ENST00000445503.5:c.88_100del	ENSP00000405294.1:p.Glu30ProfsTer?
ENST00000456246.1:c.88_100del	ENSP00000410570.1:p.Glu30ProfsTer?
ENST00000493177.1:n.152_164del
ENST00000540021.5:c.88_100del	ENSP00000446475.1:p.Glu30ProfsTer?
ENST00000606499.1:c.-37-7606_-37-7594del	ENSP00000475605.1:n.-37-7606_-37-7594del
ENST00000614496.4:c.-649_-637del	ENSP00000477844.1:n.-649_-637del
ENST00000616033.4:c.88_100del	ENSP00000480261.1:p.Glu30ProfsTer?
ENST00000622629.4:c.-3009_-2997del	ENSP00000482078.1:n.-3009_-2997del
NM_000179.2:c.88_100del , LRG_219t1:c.88_100del	NP_000170.1:p.Glu30ProfsTer?
NM_001281492.1:c.88_100del	NP_001268421.1:p.Glu30ProfsTer?
NM_001281493.1:c.-649_-637del	NP_001268422.1:n.-649_-637del
XM_011532800.1:c.-38+90_-38+102del	XP_011531102.1:n.-38+90_-38+102del
XM_024452819.1:c.88_100del	XP_024308587.1:p.Glu30ProfsTer?
XM_024452822.1:c.-649_-637del	XP_024308590.1:n.-649_-637del
NM_000179.3:c.88_100del MANE Select	NP_000170.1:p.Glu30ProfsTer?
NM_001281492.2:c.88_100del	NP_001268421.1:p.Glu30ProfsTer?
NM_001281493.2:c.-649_-637del	NP_001268422.1:n.-649_-637del