Canonical Allele Identifier: CA1139656998

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 923203
• ClinVar RCV Id: RCV001183693 ; RCV001209414

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47795976_47795977delinsCA , CM000664.2:g.47795976_47795977delinsCA	GRCh38
NC_000002.11:g.48023115_48023116delinsCA , CM000664.1:g.48023115_48023116delinsCA	GRCh37
NC_000002.10:g.47876619_47876620delinsCA	NCBI36
NG_007111.1:g.17830_17831delinsCA , LRG_219:g.17830_17831delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.243_244delinsCA (MSH6)	ENSP00000406248.2:p.Glu82Lys
ENST00000420813.6:c.243_244delinsCA (MSH6)	ENSP00000390382.2:p.Glu82Lys
ENST00000455383.6:c.243_244delinsCA (MSH6)	ENSP00000397484.2:p.Glu82Lys
ENST00000700004.2:c.540_541delinsCA (MSH6)	ENSP00000514752.2:p.Glu181Lys
ENST00000699999.1:n.624_625delinsCA (MSH6)
ENST00000700000.1:c.540_541delinsCA (MSH6)	ENSP00000514749.1:p.Glu181Lys
ENST00000700001.1:n.612_613delinsCA (MSH6)
ENST00000700002.1:c.540_541delinsCA (MSH6)	ENSP00000514750.1:p.Glu181Lys
ENST00000700003.1:c.540_541delinsCA (MSH6)	ENSP00000514751.1:p.Glu181Lys
ENST00000234420.11:c.540_541delinsCA (MSH6) MANE Select	ENSP00000234420.5:p.Glu181Lys
ENST00000540021.6:c.238-2635_238-2634delinsCA (MSH6)	ENSP00000446475.1:n.238-2635_238-2634delinsCA
ENST00000652107.1:c.243_244delinsCA (MSH6)	ENSP00000498629.1:p.Glu82Lys
ENST00000673637.1:c.243_244delinsCA (MSH6)	ENSP00000501310.1:p.Glu82Lys
ENST00000673922.1:n.350-2635_350-2634delinsCA (MSH6)
ENST00000234420.9:c.540_541delinsCA (MSH6)	ENSP00000234420.4:p.Glu181Lys
ENST00000405808.5:c.170-6537_170-6536delinsTG (FBXO11)	ENSP00000385127.1:n.170-6537_170-6536delinsTG
ENST00000411819.1:c.243_244delinsCA (MSH6)	ENSP00000406248.1:p.Glu82Lys
ENST00000420813.5:c.243_244delinsCA (MSH6)	ENSP00000390382.1:p.Glu82Lys
ENST00000434234.5:c.*125-6537_*125-6536delinsTG (FBXO11)	ENSP00000402692.1:n.*125-6537_*125-6536delinsTG
ENST00000445503.5:c.458-2635_458-2634delinsCA (MSH6)	ENSP00000405294.1:n.458-2635_458-2634delinsCA
ENST00000455383.5:c.243_244delinsCA (MSH6)	ENSP00000397484.1:p.Glu82Lys
ENST00000456246.1:c.*28_*29delinsCA (MSH6)	ENSP00000410570.1:n.*28_*29delinsCA
ENST00000538136.1:c.-363_-362delinsCA (MSH6)	ENSP00000438580.1:n.-363_-362delinsCA
ENST00000540021.5:c.238-2635_238-2634delinsCA (MSH6)	ENSP00000446475.1:n.238-2635_238-2634delinsCA
ENST00000614496.4:c.-279-2635_-279-2634delinsCA (MSH6)	ENSP00000477844.1:n.-279-2635_-279-2634delinsCA
ENST00000616033.4:c.537_538delinsCA (MSH6)	ENSP00000480261.1:p.Glu180Lys
ENST00000622629.4:c.-2557_-2556delinsCA (MSH6)	ENSP00000482078.1:n.-2557_-2556delinsCA
NM_000179.2:c.540_541delinsCA , LRG_219t1:c.540_541delinsCA (MSH6)	NP_000170.1:p.Glu181Lys
NM_001281492.1:c.238-2635_238-2634delinsCA (MSH6)	NP_001268421.1:n.238-2635_238-2634delinsCA
NM_001281493.1:c.-279-2635_-279-2634delinsCA (MSH6)	NP_001268422.1:n.-279-2635_-279-2634delinsCA
NM_001281494.1:c.-363_-362delinsCA (MSH6)	NP_001268423.1:n.-363_-362delinsCA
XM_005264271.1:c.243_244delinsCA (MSH6)	XP_005264328.1:p.Glu82Lys
XM_011532798.1:c.357_358delinsCA (MSH6)	XP_011531100.1:p.Glu120Lys
XM_011532799.1:c.243_244delinsCA (MSH6)	XP_011531101.1:p.Glu82Lys
XM_011532800.1:c.243_244delinsCA (MSH6)	XP_011531102.1:p.Glu82Lys
XM_024452819.1:c.540_541delinsCA (MSH6)	XP_024308587.1:p.Glu181Lys
XM_024452820.1:c.357_358delinsCA (MSH6)	XP_024308588.1:p.Glu120Lys
XM_024452821.1:c.243_244delinsCA (MSH6)	XP_024308589.1:p.Glu82Lys
XM_024452822.1:c.-279-2635_-279-2634delinsCA (MSH6)	XP_024308590.1:n.-279-2635_-279-2634delinsCA
NM_000179.3:c.540_541delinsCA (MSH6) MANE Select	NP_000170.1:p.Glu181Lys
NM_001281492.2:c.238-2635_238-2634delinsCA (MSH6)	NP_001268421.1:n.238-2635_238-2634delinsCA
NM_001281493.2:c.-279-2635_-279-2634delinsCA (MSH6)	NP_001268422.1:n.-279-2635_-279-2634delinsCA
NM_001281494.2:c.-363_-362delinsCA (MSH6)	NP_001268423.1:n.-363_-362delinsCA