Canonical Allele Identifier: CA1139655704

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 954820
• ClinVar RCV Id: RCV001227347 ; RCV002411838 ; RCV003449716
• dbSNP Id: rs1669395325

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799916_47799932del , CM000664.2:g.47799916_47799932del	GRCh38
NC_000002.11:g.48027055_48027071del , CM000664.1:g.48027055_48027071del	GRCh37
NC_000002.10:g.47880559_47880575del	NCBI36
NG_007111.1:g.21770_21786del , LRG_219:g.21770_21786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1636_1652del (MSH6)	ENSP00000406248.2:p.Glu546HisfsTer10
ENST00000420813.6:c.1636_1652del (MSH6)	ENSP00000390382.2:p.Glu546HisfsTer10
ENST00000455383.6:c.1636_1652del (MSH6)	ENSP00000397484.2:p.Glu546HisfsTer10
ENST00000700004.2:c.1933_1949del (MSH6)	ENSP00000514752.2:p.Glu645HisfsTer10
ENST00000699999.1:n.2017_2033del (MSH6)
ENST00000700000.1:c.1606+327_1606+343del (MSH6)	ENSP00000514749.1:n.1606+327_1606+343del
ENST00000700002.1:c.1939_1955del (MSH6)	ENSP00000514750.1:p.Glu647HisfsTer10
ENST00000700003.1:c.628-3504_628-3488del (MSH6)	ENSP00000514751.1:n.628-3504_628-3488del
ENST00000700004.1:c.1090_1106del (MSH6)	ENSP00000514752.1:p.Glu364HisfsTer10
ENST00000234420.11:c.1933_1949del (MSH6) MANE Select	ENSP00000234420.5:p.Glu645HisfsTer10
ENST00000540021.6:c.1543_1559del (MSH6)	ENSP00000446475.1:p.Glu515HisfsTer10
ENST00000652107.1:c.1636_1652del (MSH6)	ENSP00000498629.1:p.Glu546HisfsTer10
ENST00000673637.1:c.1636_1652del (MSH6)	ENSP00000501310.1:p.Glu546HisfsTer10
ENST00000234420.9:c.1933_1949del (MSH6)	ENSP00000234420.4:p.Glu645HisfsTer10
ENST00000405808.5:c.169+8265_169+8281del (FBXO11)	ENSP00000385127.1:n.169+8265_169+8281del
ENST00000434234.5:c.*124+8064_*124+8080del (FBXO11)	ENSP00000402692.1:n.*124+8064_*124+8080del
ENST00000445503.5:c.*1280_*1296del (MSH6)	ENSP00000405294.1:n.*1280_*1296del
ENST00000538136.1:c.1027_1043del (MSH6)	ENSP00000438580.1:p.Glu343HisfsTer10
ENST00000540021.5:c.1543_1559del (MSH6)	ENSP00000446475.1:p.Glu515HisfsTer10
ENST00000614496.4:c.1027_1043del (MSH6)	ENSP00000477844.1:p.Glu343HisfsTer10
ENST00000616033.4:c.1930_1946del (MSH6)	ENSP00000480261.1:p.Glu644HisfsTer10
ENST00000622629.4:c.-1164_-1148del (MSH6)	ENSP00000482078.1:n.-1164_-1148del
NM_000179.2:c.1933_1949del , LRG_219t1:c.1933_1949del (MSH6)	NP_000170.1:p.Glu645HisfsTer10
NM_001281492.1:c.1543_1559del (MSH6)	NP_001268421.1:p.Glu515HisfsTer10
NM_001281493.1:c.1027_1043del (MSH6)	NP_001268422.1:p.Glu343HisfsTer10
NM_001281494.1:c.1027_1043del (MSH6)	NP_001268423.1:p.Glu343HisfsTer10
XM_005264271.1:c.1636_1652del (MSH6)	XP_005264328.1:p.Glu546HisfsTer10
XM_011532798.1:c.1750_1766del (MSH6)	XP_011531100.1:p.Glu584HisfsTer10
XM_011532799.1:c.1636_1652del (MSH6)	XP_011531101.1:p.Glu546HisfsTer10
XM_011532800.1:c.1636_1652del (MSH6)	XP_011531102.1:p.Glu546HisfsTer10
XM_024452819.1:c.1933_1949del (MSH6)	XP_024308587.1:p.Glu645HisfsTer10
XM_024452820.1:c.1750_1766del (MSH6)	XP_024308588.1:p.Glu584HisfsTer10
XM_024452821.1:c.1636_1652del (MSH6)	XP_024308589.1:p.Glu546HisfsTer10
XM_024452822.1:c.1027_1043del (MSH6)	XP_024308590.1:p.Glu343HisfsTer10
NM_000179.3:c.1933_1949del (MSH6) MANE Select	NP_000170.1:p.Glu645HisfsTer10
NM_001281492.2:c.1543_1559del (MSH6)	NP_001268421.1:p.Glu515HisfsTer10
NM_001281493.2:c.1027_1043del (MSH6)	NP_001268422.1:p.Glu343HisfsTer10
NM_001281494.2:c.1027_1043del (MSH6)	NP_001268423.1:p.Glu343HisfsTer10