Canonical Allele Identifier: CA2580067593

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2171720
• ClinVar RCV Id: RCV003087062

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806810_47806811del , CM000664.2:g.47806810_47806811del	GRCh38
NC_000002.11:g.48033949_48033950del , CM000664.1:g.48033949_48033950del	GRCh37
NC_000002.10:g.47887453_47887454del	NCBI36
NG_007111.1:g.28664_28665del , LRG_219:g.28664_28665del
NG_008397.1:g.103866_103867del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3736_3737del (MSH6)	ENSP00000406248.2:p.Val1246ArgfsTer3
ENST00000420813.6:c.3736_3737del (MSH6)	ENSP00000390382.2:p.Val1246ArgfsTer3
ENST00000455383.6:c.3736_3737del (MSH6)	ENSP00000397484.2:p.Val1246ArgfsTer3
ENST00000700004.2:c.3649_3650del (MSH6)	ENSP00000514752.2:p.Val1217ArgfsTer3
ENST00000699999.1:n.4707_4708del (MSH6)
ENST00000700000.1:c.2467_2468del (MSH6)	ENSP00000514749.1:p.Val823ArgfsTer3
ENST00000700002.1:c.4039_4040del (MSH6)	ENSP00000514750.1:p.Val1347ArgfsTer3
ENST00000700003.1:c.1488_1489del (MSH6)	ENSP00000514751.1:n.1488_1489del
ENST00000700004.1:c.2806_2807del (MSH6)	ENSP00000514752.1:p.Val936ArgfsTer3
ENST00000700005.1:n.3011_3012del (MSH6)
ENST00000700007.1:n.2628_2629del (MSH6)
ENST00000700008.1:n.2295_2296del (MSH6)
ENST00000700009.1:n.2697_2698del (MSH6)
ENST00000700010.1:n.1442_1443del (MSH6)
ENST00000700011.1:n.3327_3328del (MSH6)
ENST00000682451.1:n.3938_3939del (FBXO11)
ENST00000684712.1:n.4200_4201del (FBXO11)
ENST00000234420.11:c.4033_4034del (MSH6) MANE Select	ENSP00000234420.5:p.Val1345ArgfsTer3
ENST00000540021.6:c.3643_3644del (MSH6)	ENSP00000446475.1:p.Val1215ArgfsTer3
ENST00000652107.1:c.3736_3737del (MSH6)	ENSP00000498629.1:p.Val1246ArgfsTer3
ENST00000673637.1:c.3736_3737del (MSH6)	ENSP00000501310.1:p.Val1246ArgfsTer3
ENST00000234420.9:c.4033_4034del (MSH6)	ENSP00000234420.4:p.Val1345ArgfsTer3
ENST00000405808.5:c.169+1385_169+1386del (FBXO11)	ENSP00000385127.1:n.169+1385_169+1386del
ENST00000434234.5:c.*124+1184_*124+1185del (FBXO11)	ENSP00000402692.1:n.*124+1184_*124+1185del
ENST00000445503.5:c.*3380_*3381del (MSH6)	ENSP00000405294.1:n.*3380_*3381del
ENST00000465204.5:n.3100_3101del (FBXO11)
ENST00000538136.1:c.3127_3128del (MSH6)	ENSP00000438580.1:p.Val1043ArgfsTer3
ENST00000540021.5:c.3643_3644del (MSH6)	ENSP00000446475.1:p.Val1215ArgfsTer3
ENST00000614496.4:c.3127_3128del (MSH6)	ENSP00000477844.1:p.Val1043ArgfsTer3
ENST00000622629.4:c.934_935del (MSH6)	ENSP00000482078.1:p.Val312ArgfsTer3
NM_000179.2:c.4033_4034del , LRG_219t1:c.4033_4034del (MSH6)	NP_000170.1:p.Val1345ArgfsTer3
NM_001281492.1:c.3643_3644del (MSH6)	NP_001268421.1:p.Val1215ArgfsTer3
NM_001281493.1:c.3127_3128del (MSH6)	NP_001268422.1:p.Val1043ArgfsTer3
NM_001281494.1:c.3127_3128del (MSH6)	NP_001268423.1:p.Val1043ArgfsTer3
XM_005264271.1:c.3736_3737del (MSH6)	XP_005264328.1:p.Val1246ArgfsTer3
XM_011532798.1:c.3850_3851del (MSH6)	XP_011531100.1:p.Val1284ArgfsTer3
XM_011532799.1:c.3736_3737del (MSH6)	XP_011531101.1:p.Val1246ArgfsTer3
XM_011532800.1:c.3736_3737del (MSH6)	XP_011531102.1:p.Val1246ArgfsTer3
XM_024452819.1:c.4126_4127del (MSH6)	XP_024308587.1:p.Val1376ArgfsTer3
XM_024452820.1:c.3943_3944del (MSH6)	XP_024308588.1:p.Val1315ArgfsTer3
XM_024452821.1:c.3829_3830del (MSH6)	XP_024308589.1:p.Val1277ArgfsTer3
XM_024452822.1:c.3220_3221del (MSH6)	XP_024308590.1:p.Val1074ArgfsTer3
NM_000179.3:c.4033_4034del (MSH6) MANE Select	NP_000170.1:p.Val1345ArgfsTer3
NM_001281492.2:c.3643_3644del (MSH6)	NP_001268421.1:p.Val1215ArgfsTer3
NM_001281493.2:c.3127_3128del (MSH6)	NP_001268422.1:p.Val1043ArgfsTer3
NM_001281494.2:c.3127_3128del (MSH6)	NP_001268423.1:p.Val1043ArgfsTer3