Canonical Allele Identifier: CA645369264

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 428295
• ClinVar RCV Id: RCV000491799 ; RCV003449287 ; RCV001851335
• dbSNP Id: rs1114167694
• MyVariant Identifiers: chr2:g.48027116_48027117del (hg19) ; chr2:g.47799977_47799978del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799977_47799978del , CM000664.2:g.47799977_47799978del	GRCh38
NC_000002.11:g.48027116_48027117del , CM000664.1:g.48027116_48027117del	GRCh37
NC_000002.10:g.47880620_47880621del	NCBI36
NG_007111.1:g.21831_21832del , LRG_219:g.21831_21832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1697_1698del (MSH6)	ENSP00000406248.2:p.Glu566ValfsTer2
ENST00000420813.6:c.1697_1698del (MSH6)	ENSP00000390382.2:p.Glu566ValfsTer2
ENST00000455383.6:c.1697_1698del (MSH6)	ENSP00000397484.2:p.Glu566ValfsTer2
ENST00000700004.2:c.1994_1995del (MSH6)	ENSP00000514752.2:p.Glu665ValfsTer2
ENST00000699999.1:n.2078_2079del (MSH6)
ENST00000700000.1:c.1606+388_1606+389del (MSH6)	ENSP00000514749.1:n.1606+388_1606+389del
ENST00000700002.1:c.2000_2001del (MSH6)	ENSP00000514750.1:p.Glu667ValfsTer2
ENST00000700003.1:c.628-3443_628-3442del (MSH6)	ENSP00000514751.1:n.628-3443_628-3442del
ENST00000700004.1:c.1151_1152del (MSH6)	ENSP00000514752.1:p.Glu384ValfsTer2
ENST00000234420.11:c.1994_1995del (MSH6) MANE Select	ENSP00000234420.5:p.Glu665ValfsTer2
ENST00000540021.6:c.1604_1605del (MSH6)	ENSP00000446475.1:p.Glu535ValfsTer2
ENST00000652107.1:c.1697_1698del (MSH6)	ENSP00000498629.1:p.Glu566ValfsTer2
ENST00000673637.1:c.1697_1698del (MSH6)	ENSP00000501310.1:p.Glu566ValfsTer2
ENST00000234420.9:c.1994_1995del (MSH6)	ENSP00000234420.4:p.Glu665ValfsTer2
ENST00000405808.5:c.169+8219_169+8220del (FBXO11)	ENSP00000385127.1:n.169+8219_169+8220del
ENST00000434234.5:c.*124+8018_*124+8019del (FBXO11)	ENSP00000402692.1:n.*124+8018_*124+8019del
ENST00000445503.5:c.*1341_*1342del (MSH6)	ENSP00000405294.1:n.*1341_*1342del
ENST00000538136.1:c.1088_1089del (MSH6)	ENSP00000438580.1:p.Glu363ValfsTer2
ENST00000540021.5:c.1604_1605del (MSH6)	ENSP00000446475.1:p.Glu535ValfsTer2
ENST00000614496.4:c.1088_1089del (MSH6)	ENSP00000477844.1:p.Glu363ValfsTer2
ENST00000616033.4:c.1991_1992del (MSH6)	ENSP00000480261.1:p.Glu664ValfsTer2
ENST00000622629.4:c.-1103_-1102del (MSH6)	ENSP00000482078.1:n.-1103_-1102del
NM_000179.2:c.1994_1995del , LRG_219t1:c.1994_1995del (MSH6)	NP_000170.1:p.Glu665ValfsTer2
NM_001281492.1:c.1604_1605del (MSH6)	NP_001268421.1:p.Glu535ValfsTer2
NM_001281493.1:c.1088_1089del (MSH6)	NP_001268422.1:p.Glu363ValfsTer2
NM_001281494.1:c.1088_1089del (MSH6)	NP_001268423.1:p.Glu363ValfsTer2
XM_005264271.1:c.1697_1698del (MSH6)	XP_005264328.1:p.Glu566ValfsTer2
XM_011532798.1:c.1811_1812del (MSH6)	XP_011531100.1:p.Glu604ValfsTer2
XM_011532799.1:c.1697_1698del (MSH6)	XP_011531101.1:p.Glu566ValfsTer2
XM_011532800.1:c.1697_1698del (MSH6)	XP_011531102.1:p.Glu566ValfsTer2
XM_024452819.1:c.1994_1995del (MSH6)	XP_024308587.1:p.Glu665ValfsTer2
XM_024452820.1:c.1811_1812del (MSH6)	XP_024308588.1:p.Glu604ValfsTer2
XM_024452821.1:c.1697_1698del (MSH6)	XP_024308589.1:p.Glu566ValfsTer2
XM_024452822.1:c.1088_1089del (MSH6)	XP_024308590.1:p.Glu363ValfsTer2
NM_000179.3:c.1994_1995del (MSH6) MANE Select	NP_000170.1:p.Glu665ValfsTer2
NM_001281492.2:c.1604_1605del (MSH6)	NP_001268421.1:p.Glu535ValfsTer2
NM_001281493.2:c.1088_1089del (MSH6)	NP_001268422.1:p.Glu363ValfsTer2
NM_001281494.2:c.1088_1089del (MSH6)	NP_001268423.1:p.Glu363ValfsTer2