Canonical Allele Identifier: CA645369234

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 428327
• ClinVar RCV Id: RCV000490855 ; RCV003449302
• dbSNP Id: rs1114167718

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799159_47799161delinsGGAA , CM000664.2:g.47799159_47799161delinsGGAA	GRCh38
NC_000002.11:g.48026298_48026300delinsGGAA , CM000664.1:g.48026298_48026300delinsGGAA	GRCh37
NC_000002.10:g.47879802_47879804delinsGGAA	NCBI36
NG_007111.1:g.21013_21015delinsGGAA , LRG_219:g.21013_21015delinsGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.879_881delinsGGAA (MSH6)	ENSP00000406248.2:p.Asp293GlufsTer9
ENST00000420813.6:c.879_881delinsGGAA (MSH6)	ENSP00000390382.2:p.Asp293GlufsTer9
ENST00000455383.6:c.879_881delinsGGAA (MSH6)	ENSP00000397484.2:p.Asp293GlufsTer9
ENST00000700004.2:c.1176_1178delinsGGAA (MSH6)	ENSP00000514752.2:p.Asp392GlufsTer9
ENST00000699999.1:n.1260_1262delinsGGAA (MSH6)
ENST00000700000.1:c.1176_1178delinsGGAA (MSH6)	ENSP00000514749.1:p.Asp392GlufsTer9
ENST00000700002.1:c.1182_1184delinsGGAA (MSH6)	ENSP00000514750.1:p.Asp394GlufsTer9
ENST00000700003.1:c.627+3096_627+3098delinsGGAA (MSH6)	ENSP00000514751.1:n.627+3096_627+3098delinsGGAA
ENST00000700004.1:c.333_335delinsGGAA (MSH6)	ENSP00000514752.1:p.Asp111GlufsTer9
ENST00000234420.11:c.1176_1178delinsGGAA (MSH6) MANE Select	ENSP00000234420.5:p.Asp392GlufsTer9
ENST00000540021.6:c.786_788delinsGGAA (MSH6)	ENSP00000446475.1:p.Asp262GlufsTer9
ENST00000652107.1:c.879_881delinsGGAA (MSH6)	ENSP00000498629.1:p.Asp293GlufsTer9
ENST00000673637.1:c.879_881delinsGGAA (MSH6)	ENSP00000501310.1:p.Asp293GlufsTer9
ENST00000234420.9:c.1176_1178delinsGGAA (MSH6)	ENSP00000234420.4:p.Asp392GlufsTer9
ENST00000405808.5:c.169+9034_169+9036delinsTTCC (FBXO11)	ENSP00000385127.1:n.169+9034_169+9036delinsTTCC
ENST00000434234.5:c.*124+8833_*124+8835delinsTTCC (FBXO11)	ENSP00000402692.1:n.*124+8833_*124+8835delinsTTCC
ENST00000445503.5:c.*523_*525delinsGGAA (MSH6)	ENSP00000405294.1:n.*523_*525delinsGGAA
ENST00000538136.1:c.270_272delinsGGAA (MSH6)	ENSP00000438580.1:p.Asp90GlufsTer9
ENST00000540021.5:c.786_788delinsGGAA (MSH6)	ENSP00000446475.1:p.Asp262GlufsTer9
ENST00000614496.4:c.270_272delinsGGAA (MSH6)	ENSP00000477844.1:p.Asp90GlufsTer9
ENST00000616033.4:c.1173_1175delinsGGAA (MSH6)	ENSP00000480261.1:p.Asp391GlufsTer9
ENST00000622629.4:c.-1921_-1919delinsGGAA (MSH6)	ENSP00000482078.1:n.-1921_-1919delinsGGAA
NM_000179.2:c.1176_1178delinsGGAA , LRG_219t1:c.1176_1178delinsGGAA (MSH6)	NP_000170.1:p.Asp392GlufsTer9
NM_001281492.1:c.786_788delinsGGAA (MSH6)	NP_001268421.1:p.Asp262GlufsTer9
NM_001281493.1:c.270_272delinsGGAA (MSH6)	NP_001268422.1:p.Asp90GlufsTer9
NM_001281494.1:c.270_272delinsGGAA (MSH6)	NP_001268423.1:p.Asp90GlufsTer9
XM_005264271.1:c.879_881delinsGGAA (MSH6)	XP_005264328.1:p.Asp293GlufsTer9
XM_011532798.1:c.993_995delinsGGAA (MSH6)	XP_011531100.1:p.Asp331GlufsTer9
XM_011532799.1:c.879_881delinsGGAA (MSH6)	XP_011531101.1:p.Asp293GlufsTer9
XM_011532800.1:c.879_881delinsGGAA (MSH6)	XP_011531102.1:p.Asp293GlufsTer9
XM_024452819.1:c.1176_1178delinsGGAA (MSH6)	XP_024308587.1:p.Asp392GlufsTer9
XM_024452820.1:c.993_995delinsGGAA (MSH6)	XP_024308588.1:p.Asp331GlufsTer9
XM_024452821.1:c.879_881delinsGGAA (MSH6)	XP_024308589.1:p.Asp293GlufsTer9
XM_024452822.1:c.270_272delinsGGAA (MSH6)	XP_024308590.1:p.Asp90GlufsTer9
NM_000179.3:c.1176_1178delinsGGAA (MSH6) MANE Select	NP_000170.1:p.Asp392GlufsTer9
NM_001281492.2:c.786_788delinsGGAA (MSH6)	NP_001268421.1:p.Asp262GlufsTer9
NM_001281493.2:c.270_272delinsGGAA (MSH6)	NP_001268422.1:p.Asp90GlufsTer9
NM_001281494.2:c.270_272delinsGGAA (MSH6)	NP_001268423.1:p.Asp90GlufsTer9