Canonical Allele Identifier: CA2658965732

Gene: MSH6

Linked Data

• gnomAD v4: 2-47783385-G-GCGAGGCTGGGCCTGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783387_47783403dup , CM000664.2:g.47783387_47783403dup	GRCh38
NC_000002.11:g.48010526_48010542dup , CM000664.1:g.48010526_48010542dup	GRCh37
NC_000002.10:g.47864030_47864046dup	NCBI36
NG_007111.1:g.5241_5257dup , LRG_219:g.5241_5257dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.154_170dup	ENSP00000514752.2:p.Pro59LeufsTer28
ENST00000699999.1:n.238_254dup
ENST00000700000.1:c.154_170dup	ENSP00000514749.1:p.Pro59LeufsTer28
ENST00000700001.1:n.226_242dup
ENST00000700002.1:c.154_170dup	ENSP00000514750.1:p.Pro59LeufsTer28
ENST00000700003.1:c.154_170dup	ENSP00000514751.1:p.Pro59LeufsTer28
ENST00000234420.11:c.154_170dup MANE Select	ENSP00000234420.5:p.Pro59LeufsTer28
ENST00000540021.6:c.154_170dup	ENSP00000446475.1:p.Pro59LeufsTer28
ENST00000652107.1:c.-37-7540_-37-7524dup	ENSP00000498629.1:n.-37-7540_-37-7524dup
ENST00000673637.1:c.-38+156_-38+172dup	ENSP00000501310.1:n.-38+156_-38+172dup
ENST00000673922.1:n.243_259dup
ENST00000234420.9:c.154_170dup	ENSP00000234420.4:p.Pro59LeufsTer28
ENST00000445503.5:c.154_170dup	ENSP00000405294.1:p.Pro59LeufsTer28
ENST00000456246.1:c.154_170dup	ENSP00000410570.1:p.Pro59LeufsTer28
ENST00000493177.1:n.218_234dup
ENST00000540021.5:c.154_170dup	ENSP00000446475.1:p.Pro59LeufsTer28
ENST00000606499.1:c.-37-7540_-37-7524dup	ENSP00000475605.1:n.-37-7540_-37-7524dup
ENST00000614496.4:c.-583_-567dup	ENSP00000477844.1:n.-583_-567dup
ENST00000616033.4:c.152_168dup	ENSP00000480261.1:p.Arg57GlufsTer29
ENST00000622629.4:c.-2943_-2927dup	ENSP00000482078.1:n.-2943_-2927dup
NM_000179.2:c.154_170dup , LRG_219t1:c.154_170dup	NP_000170.1:p.Pro59LeufsTer28
NM_001281492.1:c.154_170dup	NP_001268421.1:p.Pro59LeufsTer28
NM_001281493.1:c.-583_-567dup	NP_001268422.1:n.-583_-567dup
XM_011532800.1:c.-38+156_-38+172dup	XP_011531102.1:n.-38+156_-38+172dup
XM_024452819.1:c.154_170dup	XP_024308587.1:p.Pro59LeufsTer28
XM_024452822.1:c.-583_-567dup	XP_024308590.1:n.-583_-567dup
NM_000179.3:c.154_170dup MANE Select	NP_000170.1:p.Pro59LeufsTer28
NM_001281492.2:c.154_170dup	NP_001268421.1:p.Pro59LeufsTer28
NM_001281493.2:c.-583_-567dup	NP_001268422.1:n.-583_-567dup