Canonical Allele Identifier: CA190421

Gene: MSH6

Linked Data

• ClinVar Variation Id: 184901
• ClinVar RCV Id: RCV000164241 ; RCV000486035 ; RCV000547641 ; RCV002267908 ; RCV003462128 ; RCV003995329
• dbSNP Id: rs786201776
• gnomAD v2: 2-48010537-T-TGGGCCC
• gnomAD v3: 2-47783398-T-TGGGCCC
• gnomAD v4: 2-47783398-T-TGGGCCC
• MyVariant Identifiers: chr2:g.48010538_48010543dupGGGCCC (hg19) ; chr2:g.48010537_48010538insGGGCCC (hg19) ; chr2:g.47783399_47783404dupGGGCCC (hg38) ; chr2:g.47783398_47783399insGGGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783399_47783404dup , CM000664.2:g.47783399_47783404dup	GRCh38
NC_000002.11:g.48010538_48010543dup , CM000664.1:g.48010538_48010543dup	GRCh37
NC_000002.10:g.47864042_47864047dup	NCBI36
NG_007111.1:g.5253_5258dup , LRG_219:g.5253_5258dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.166_171dup	ENSP00000514752.2:p.Pro57_Arg58insGlyPro
ENST00000699999.1:n.250_255dup
ENST00000700000.1:c.166_171dup	ENSP00000514749.1:p.Pro57_Arg58insGlyPro
ENST00000700001.1:n.238_243dup
ENST00000700002.1:c.166_171dup	ENSP00000514750.1:p.Pro57_Arg58insGlyPro
ENST00000700003.1:c.166_171dup	ENSP00000514751.1:p.Pro57_Arg58insGlyPro
ENST00000234420.11:c.166_171dup MANE Select	ENSP00000234420.5:p.Pro57_Arg58insGlyPro
ENST00000540021.6:c.166_171dup	ENSP00000446475.1:p.Pro57_Arg58insGlyPro
ENST00000652107.1:c.-37-7528_-37-7523dup	ENSP00000498629.1:n.-37-7528_-37-7523dup
ENST00000673637.1:c.-38+168_-38+173dup	ENSP00000501310.1:n.-38+168_-38+173dup
ENST00000673922.1:n.255_260dup
ENST00000234420.9:c.166_171dup	ENSP00000234420.4:p.Pro57_Arg58insGlyPro
ENST00000445503.5:c.166_171dup	ENSP00000405294.1:p.Pro57_Arg58insGlyPro
ENST00000456246.1:c.166_171dup	ENSP00000410570.1:p.Pro57_Arg58insGlyPro
ENST00000493177.1:n.230_235dup
ENST00000540021.5:c.166_171dup	ENSP00000446475.1:p.Pro57_Arg58insGlyPro
ENST00000606499.1:c.-37-7528_-37-7523dup	ENSP00000475605.1:n.-37-7528_-37-7523dup
ENST00000614496.4:c.-571_-566dup	ENSP00000477844.1:n.-571_-566dup
ENST00000616033.4:c.164_169-1dup
ENST00000622629.4:c.-2931_-2926dup	ENSP00000482078.1:n.-2931_-2926dup
NM_000179.2:c.166_171dup , LRG_219t1:c.166_171dup	NP_000170.1:p.Pro57_Arg58insGlyPro
NM_001281492.1:c.166_171dup	NP_001268421.1:p.Pro57_Arg58insGlyPro
NM_001281493.1:c.-571_-566dup	NP_001268422.1:n.-571_-566dup
XM_011532800.1:c.-38+168_-38+173dup	XP_011531102.1:n.-38+168_-38+173dup
XM_024452819.1:c.166_171dup	XP_024308587.1:p.Pro57_Arg58insGlyPro
XM_024452822.1:c.-571_-566dup	XP_024308590.1:n.-571_-566dup
NM_000179.3:c.166_171dup MANE Select	NP_000170.1:p.Pro57_Arg58insGlyPro
NM_001281492.2:c.166_171dup	NP_001268421.1:p.Pro57_Arg58insGlyPro
NM_001281493.2:c.-571_-566dup	NP_001268422.1:n.-571_-566dup