Canonical Allele Identifier: CA2597441678

Gene: MSH6

Linked Data

• dbSNP Id: rs1230699113
• gnomAD v3: 2-47783578-T-TGG
• gnomAD v4: 2-47783578-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783584_47783585dup , CM000664.2:g.47783584_47783585dup	GRCh38
NC_000002.11:g.48010723_48010724dup , CM000664.1:g.48010723_48010724dup	GRCh37
NC_000002.10:g.47864227_47864228dup	NCBI36
NG_007111.1:g.5438_5439dup , LRG_219:g.5438_5439dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.260+91_260+92dup	ENSP00000514752.2:n.260+91_260+92dup
ENST00000699999.1:n.344+91_344+92dup
ENST00000700000.1:c.260+91_260+92dup	ENSP00000514749.1:n.260+91_260+92dup
ENST00000700001.1:n.332+91_332+92dup
ENST00000700002.1:c.260+91_260+92dup	ENSP00000514750.1:n.260+91_260+92dup
ENST00000700003.1:c.260+91_260+92dup	ENSP00000514751.1:n.260+91_260+92dup
ENST00000234420.11:c.260+91_260+92dup MANE Select	ENSP00000234420.5:n.260+91_260+92dup
ENST00000540021.6:c.237+114_237+115dup	ENSP00000446475.1:n.237+114_237+115dup
ENST00000652107.1:c.-37-7343_-37-7342dup	ENSP00000498629.1:n.-37-7343_-37-7342dup
ENST00000673637.1:c.-38+353_-38+354dup	ENSP00000501310.1:n.-38+353_-38+354dup
ENST00000673922.1:n.349+91_349+92dup
ENST00000234420.9:c.260+91_260+92dup	ENSP00000234420.4:n.260+91_260+92dup
ENST00000445503.5:c.260+91_260+92dup	ENSP00000405294.1:n.260+91_260+92dup
ENST00000456246.1:c.260+91_260+92dup	ENSP00000410570.1:n.260+91_260+92dup
ENST00000493177.1:n.324+91_324+92dup
ENST00000540021.5:c.237+114_237+115dup	ENSP00000446475.1:n.237+114_237+115dup
ENST00000606499.1:c.-37-7343_-37-7342dup	ENSP00000475605.1:n.-37-7343_-37-7342dup
ENST00000614496.4:c.-477+91_-477+92dup	ENSP00000477844.1:n.-477+91_-477+92dup
ENST00000616033.4:c.257+91_257+92dup	ENSP00000480261.1:n.257+91_257+92dup
ENST00000622629.4:c.-2837+91_-2837+92dup	ENSP00000482078.1:n.-2837+91_-2837+92dup
NM_000179.2:c.260+91_260+92dup , LRG_219t1:c.260+91_260+92dup	NP_000170.1:n.260+91_260+92dup
NM_001281492.1:c.237+114_237+115dup	NP_001268421.1:n.237+114_237+115dup
NM_001281493.1:c.-477+91_-477+92dup	NP_001268422.1:n.-477+91_-477+92dup
XM_011532800.1:c.-38+353_-38+354dup	XP_011531102.1:n.-38+353_-38+354dup
XM_024452819.1:c.260+91_260+92dup	XP_024308587.1:n.260+91_260+92dup
XM_024452822.1:c.-477+91_-477+92dup	XP_024308590.1:n.-477+91_-477+92dup
NM_000179.3:c.260+91_260+92dup MANE Select	NP_000170.1:n.260+91_260+92dup
NM_001281492.2:c.237+114_237+115dup	NP_001268421.1:n.237+114_237+115dup
NM_001281493.2:c.-477+91_-477+92dup	NP_001268422.1:n.-477+91_-477+92dup