Canonical Allele Identifier: CA2695200518

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673682
• ClinVar RCV Id: RCV003450319

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798904_47798905insAGCC , CM000664.2:g.47798904_47798905insAGCC	GRCh38
NC_000002.11:g.48026043_48026044insAGCC , CM000664.1:g.48026043_48026044insAGCC	GRCh37
NC_000002.10:g.47879547_47879548insAGCC	NCBI36
NG_007111.1:g.20758_20759insAGCC , LRG_219:g.20758_20759insAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.624_625insAGCC (MSH6)	ENSP00000406248.2:p.Gly209SerfsTer5
ENST00000420813.6:c.624_625insAGCC (MSH6)	ENSP00000390382.2:p.Gly209SerfsTer5
ENST00000455383.6:c.624_625insAGCC (MSH6)	ENSP00000397484.2:p.Gly209SerfsTer5
ENST00000700004.2:c.921_922insAGCC (MSH6)	ENSP00000514752.2:p.Gly308SerfsTer5
ENST00000699999.1:n.1005_1006insAGCC (MSH6)
ENST00000700000.1:c.921_922insAGCC (MSH6)	ENSP00000514749.1:p.Gly308SerfsTer5
ENST00000700002.1:c.927_928insAGCC (MSH6)	ENSP00000514750.1:p.Gly310SerfsTer5
ENST00000700003.1:c.627+2841_627+2842insAGCC (MSH6)	ENSP00000514751.1:n.627+2841_627+2842insAGCC
ENST00000700004.1:c.78_79insAGCC (MSH6)	ENSP00000514752.1:p.Gly27SerfsTer5
ENST00000234420.11:c.921_922insAGCC (MSH6) MANE Select	ENSP00000234420.5:p.Gly308SerfsTer5
ENST00000540021.6:c.531_532insAGCC (MSH6)	ENSP00000446475.1:p.Gly178SerfsTer5
ENST00000652107.1:c.624_625insAGCC (MSH6)	ENSP00000498629.1:p.Gly209SerfsTer5
ENST00000673637.1:c.624_625insAGCC (MSH6)	ENSP00000501310.1:p.Gly209SerfsTer5
ENST00000234420.9:c.921_922insAGCC (MSH6)	ENSP00000234420.4:p.Gly308SerfsTer5
ENST00000405808.5:c.169+9290_169+9291insGGCT (FBXO11)	ENSP00000385127.1:n.169+9290_169+9291insGGCT
ENST00000434234.5:c.*124+9089_*124+9090insGGCT (FBXO11)	ENSP00000402692.1:n.*124+9089_*124+9090insGGCT
ENST00000445503.5:c.*268_*269insAGCC (MSH6)	ENSP00000405294.1:n.*268_*269insAGCC
ENST00000456246.1:c.*409_*410insAGCC (MSH6)	ENSP00000410570.1:n.*409_*410insAGCC
ENST00000538136.1:c.15_16insAGCC (MSH6)	ENSP00000438580.1:p.Gly6SerfsTer5
ENST00000540021.5:c.531_532insAGCC (MSH6)	ENSP00000446475.1:p.Gly178SerfsTer5
ENST00000614496.4:c.15_16insAGCC (MSH6)	ENSP00000477844.1:p.Gly6SerfsTer5
ENST00000616033.4:c.918_919insAGCC (MSH6)	ENSP00000480261.1:p.Gly307SerfsTer5
ENST00000622629.4:c.-2176_-2175insAGCC (MSH6)	ENSP00000482078.1:n.-2176_-2175insAGCC
NM_000179.2:c.921_922insAGCC , LRG_219t1:c.921_922insAGCC (MSH6)	NP_000170.1:p.Gly308SerfsTer5
NM_001281492.1:c.531_532insAGCC (MSH6)	NP_001268421.1:p.Gly178SerfsTer5
NM_001281493.1:c.15_16insAGCC (MSH6)	NP_001268422.1:p.Gly6SerfsTer5
NM_001281494.1:c.15_16insAGCC (MSH6)	NP_001268423.1:p.Gly6SerfsTer5
XM_005264271.1:c.624_625insAGCC (MSH6)	XP_005264328.1:p.Gly209SerfsTer5
XM_011532798.1:c.738_739insAGCC (MSH6)	XP_011531100.1:p.Gly247SerfsTer5
XM_011532799.1:c.624_625insAGCC (MSH6)	XP_011531101.1:p.Gly209SerfsTer5
XM_011532800.1:c.624_625insAGCC (MSH6)	XP_011531102.1:p.Gly209SerfsTer5
XM_024452819.1:c.921_922insAGCC (MSH6)	XP_024308587.1:p.Gly308SerfsTer5
XM_024452820.1:c.738_739insAGCC (MSH6)	XP_024308588.1:p.Gly247SerfsTer5
XM_024452821.1:c.624_625insAGCC (MSH6)	XP_024308589.1:p.Gly209SerfsTer5
XM_024452822.1:c.15_16insAGCC (MSH6)	XP_024308590.1:p.Gly6SerfsTer5
NM_000179.3:c.921_922insAGCC (MSH6) MANE Select	NP_000170.1:p.Gly308SerfsTer5
NM_001281492.2:c.531_532insAGCC (MSH6)	NP_001268421.1:p.Gly178SerfsTer5
NM_001281493.2:c.15_16insAGCC (MSH6)	NP_001268422.1:p.Gly6SerfsTer5
NM_001281494.2:c.15_16insAGCC (MSH6)	NP_001268423.1:p.Gly6SerfsTer5