Canonical Allele Identifier: CA2580611281

Gene: MSH6

Linked Data

• ClinVar Variation Id: 1755298
• ClinVar RCV Id: RCV002369269 ; RCV003454182

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783356_47783357del , CM000664.2:g.47783356_47783357del	GRCh38
NC_000002.11:g.48010495_48010496del , CM000664.1:g.48010495_48010496del	GRCh37
NC_000002.10:g.47863999_47864000del	NCBI36
NG_007111.1:g.5210_5211del , LRG_219:g.5210_5211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.123_124del	ENSP00000514752.2:p.Pro42PhefsTer?
ENST00000699999.1:n.207_208del
ENST00000700000.1:c.123_124del	ENSP00000514749.1:p.Pro42PhefsTer?
ENST00000700001.1:n.195_196del
ENST00000700002.1:c.123_124del	ENSP00000514750.1:p.Pro42PhefsTer?
ENST00000700003.1:c.123_124del	ENSP00000514751.1:p.Pro42PhefsTer?
ENST00000234420.11:c.123_124del MANE Select	ENSP00000234420.5:p.Pro42PhefsTer?
ENST00000540021.6:c.123_124del	ENSP00000446475.1:p.Pro42PhefsTer?
ENST00000652107.1:c.-37-7571_-37-7570del	ENSP00000498629.1:n.-37-7571_-37-7570del
ENST00000673637.1:c.-38+125_-38+126del	ENSP00000501310.1:n.-38+125_-38+126del
ENST00000673922.1:n.212_213del
ENST00000234420.9:c.123_124del	ENSP00000234420.4:p.Pro42PhefsTer?
ENST00000445503.5:c.123_124del	ENSP00000405294.1:p.Pro42PhefsTer?
ENST00000456246.1:c.123_124del	ENSP00000410570.1:p.Pro42PhefsTer?
ENST00000493177.1:n.187_188del
ENST00000540021.5:c.123_124del	ENSP00000446475.1:p.Pro42PhefsTer?
ENST00000606499.1:c.-37-7571_-37-7570del	ENSP00000475605.1:n.-37-7571_-37-7570del
ENST00000614496.4:c.-614_-613del	ENSP00000477844.1:n.-614_-613del
ENST00000616033.4:c.121_122del	ENSP00000480261.1:p.Ser41LeufsTer?
ENST00000622629.4:c.-2974_-2973del	ENSP00000482078.1:n.-2974_-2973del
NM_000179.2:c.123_124del , LRG_219t1:c.123_124del	NP_000170.1:p.Pro42PhefsTer?
NM_001281492.1:c.123_124del	NP_001268421.1:p.Pro42PhefsTer?
NM_001281493.1:c.-614_-613del	NP_001268422.1:n.-614_-613del
XM_011532800.1:c.-38+125_-38+126del	XP_011531102.1:n.-38+125_-38+126del
XM_024452819.1:c.123_124del	XP_024308587.1:p.Pro42PhefsTer?
XM_024452822.1:c.-614_-613del	XP_024308590.1:n.-614_-613del
NM_000179.3:c.123_124del MANE Select	NP_000170.1:p.Pro42PhefsTer?
NM_001281492.2:c.123_124del	NP_001268421.1:p.Pro42PhefsTer?
NM_001281493.2:c.-614_-613del	NP_001268422.1:n.-614_-613del