Canonical Allele Identifier: CA658657035

Gene: MSH6

Linked Data

• ClinVar Variation Id: 487428
• ClinVar RCV Id: RCV000576857
• dbSNP Id: rs1553408245
• MyVariant Identifiers: chr2:g.48010497_48010504dup (hg19) ; chr2:g.47783358_47783365dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783358_47783365dup , CM000664.2:g.47783358_47783365dup	GRCh38
NC_000002.11:g.48010497_48010504dup , CM000664.1:g.48010497_48010504dup	GRCh37
NC_000002.10:g.47864001_47864008dup	NCBI36
NG_007111.1:g.5212_5219dup , LRG_219:g.5212_5219dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.125_132dup	ENSP00000514752.2:p.Gly45LeufsTer?
ENST00000699999.1:n.209_216dup
ENST00000700000.1:c.125_132dup	ENSP00000514749.1:p.Gly45LeufsTer?
ENST00000700001.1:n.197_204dup
ENST00000700002.1:c.125_132dup	ENSP00000514750.1:p.Gly45LeufsTer?
ENST00000700003.1:c.125_132dup	ENSP00000514751.1:p.Gly45LeufsTer?
ENST00000234420.11:c.125_132dup MANE Select	ENSP00000234420.5:p.Gly45LeufsTer?
ENST00000540021.6:c.125_132dup	ENSP00000446475.1:p.Gly45LeufsTer?
ENST00000652107.1:c.-37-7569_-37-7562dup	ENSP00000498629.1:n.-37-7569_-37-7562dup
ENST00000673637.1:c.-38+127_-38+134dup	ENSP00000501310.1:n.-38+127_-38+134dup
ENST00000673922.1:n.214_221dup
ENST00000234420.9:c.125_132dup	ENSP00000234420.4:p.Gly45LeufsTer?
ENST00000445503.5:c.125_132dup	ENSP00000405294.1:p.Gly45LeufsTer?
ENST00000456246.1:c.125_132dup	ENSP00000410570.1:p.Gly45LeufsTer?
ENST00000493177.1:n.189_196dup
ENST00000540021.5:c.125_132dup	ENSP00000446475.1:p.Gly45LeufsTer?
ENST00000606499.1:c.-37-7569_-37-7562dup	ENSP00000475605.1:n.-37-7569_-37-7562dup
ENST00000614496.4:c.-612_-605dup	ENSP00000477844.1:n.-612_-605dup
ENST00000616033.4:c.123_130dup	ENSP00000480261.1:p.Arg44ThrfsTer?
ENST00000622629.4:c.-2972_-2965dup	ENSP00000482078.1:n.-2972_-2965dup
NM_000179.2:c.125_132dup , LRG_219t1:c.125_132dup	NP_000170.1:p.Gly45LeufsTer?
NM_001281492.1:c.125_132dup	NP_001268421.1:p.Gly45LeufsTer?
NM_001281493.1:c.-612_-605dup	NP_001268422.1:n.-612_-605dup
XM_011532800.1:c.-38+127_-38+134dup	XP_011531102.1:n.-38+127_-38+134dup
XM_024452819.1:c.125_132dup	XP_024308587.1:p.Gly45LeufsTer?
XM_024452822.1:c.-612_-605dup	XP_024308590.1:n.-612_-605dup
NM_000179.3:c.125_132dup MANE Select	NP_000170.1:p.Gly45LeufsTer?
NM_001281492.2:c.125_132dup	NP_001268421.1:p.Gly45LeufsTer?
NM_001281493.2:c.-612_-605dup	NP_001268422.1:n.-612_-605dup