Canonical Allele Identifier: CA2695200582

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673719
• ClinVar RCV Id: RCV003450356

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799432_47799433delinsCT , CM000664.2:g.47799432_47799433delinsCT	GRCh38
NC_000002.11:g.48026571_48026572delinsCT , CM000664.1:g.48026571_48026572delinsCT	GRCh37
NC_000002.10:g.47880075_47880076delinsCT	NCBI36
NG_007111.1:g.21286_21287delinsCT , LRG_219:g.21286_21287delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1152_1153delinsCT (MSH6)	ENSP00000406248.2:p.Val385Ter
ENST00000420813.6:c.1152_1153delinsCT (MSH6)	ENSP00000390382.2:p.Val385Ter
ENST00000455383.6:c.1152_1153delinsCT (MSH6)	ENSP00000397484.2:p.Val385Ter
ENST00000700004.2:c.1449_1450delinsCT (MSH6)	ENSP00000514752.2:p.Val484Ter
ENST00000699999.1:n.1533_1534delinsCT (MSH6)
ENST00000700000.1:c.1449_1450delinsCT (MSH6)	ENSP00000514749.1:p.Val484Ter
ENST00000700002.1:c.1455_1456delinsCT (MSH6)	ENSP00000514750.1:p.Val486Ter
ENST00000700003.1:c.627+3369_627+3370delinsCT (MSH6)	ENSP00000514751.1:n.627+3369_627+3370delinsCT
ENST00000700004.1:c.606_607delinsCT (MSH6)	ENSP00000514752.1:p.Val203Ter
ENST00000234420.11:c.1449_1450delinsCT (MSH6) MANE Select	ENSP00000234420.5:p.Val484Ter
ENST00000540021.6:c.1059_1060delinsCT (MSH6)	ENSP00000446475.1:p.Val354Ter
ENST00000652107.1:c.1152_1153delinsCT (MSH6)	ENSP00000498629.1:p.Val385Ter
ENST00000673637.1:c.1152_1153delinsCT (MSH6)	ENSP00000501310.1:p.Val385Ter
ENST00000234420.9:c.1449_1450delinsCT (MSH6)	ENSP00000234420.4:p.Val484Ter
ENST00000405808.5:c.169+8762_169+8763delinsAG (FBXO11)	ENSP00000385127.1:n.169+8762_169+8763delinsAG
ENST00000434234.5:c.*124+8561_*124+8562delinsAG (FBXO11)	ENSP00000402692.1:n.*124+8561_*124+8562delinsAG
ENST00000445503.5:c.*796_*797delinsCT (MSH6)	ENSP00000405294.1:n.*796_*797delinsCT
ENST00000538136.1:c.543_544delinsCT (MSH6)	ENSP00000438580.1:p.Val182Ter
ENST00000540021.5:c.1059_1060delinsCT (MSH6)	ENSP00000446475.1:p.Val354Ter
ENST00000614496.4:c.543_544delinsCT (MSH6)	ENSP00000477844.1:p.Val182Ter
ENST00000616033.4:c.1446_1447delinsCT (MSH6)	ENSP00000480261.1:p.Val483Ter
ENST00000622629.4:c.-1648_-1647delinsCT (MSH6)	ENSP00000482078.1:n.-1648_-1647delinsCT
NM_000179.2:c.1449_1450delinsCT , LRG_219t1:c.1449_1450delinsCT (MSH6)	NP_000170.1:p.Val484Ter
NM_001281492.1:c.1059_1060delinsCT (MSH6)	NP_001268421.1:p.Val354Ter
NM_001281493.1:c.543_544delinsCT (MSH6)	NP_001268422.1:p.Val182Ter
NM_001281494.1:c.543_544delinsCT (MSH6)	NP_001268423.1:p.Val182Ter
XM_005264271.1:c.1152_1153delinsCT (MSH6)	XP_005264328.1:p.Val385Ter
XM_011532798.1:c.1266_1267delinsCT (MSH6)	XP_011531100.1:p.Val423Ter
XM_011532799.1:c.1152_1153delinsCT (MSH6)	XP_011531101.1:p.Val385Ter
XM_011532800.1:c.1152_1153delinsCT (MSH6)	XP_011531102.1:p.Val385Ter
XM_024452819.1:c.1449_1450delinsCT (MSH6)	XP_024308587.1:p.Val484Ter
XM_024452820.1:c.1266_1267delinsCT (MSH6)	XP_024308588.1:p.Val423Ter
XM_024452821.1:c.1152_1153delinsCT (MSH6)	XP_024308589.1:p.Val385Ter
XM_024452822.1:c.543_544delinsCT (MSH6)	XP_024308590.1:p.Val182Ter
NM_000179.3:c.1449_1450delinsCT (MSH6) MANE Select	NP_000170.1:p.Val484Ter
NM_001281492.2:c.1059_1060delinsCT (MSH6)	NP_001268421.1:p.Val354Ter
NM_001281493.2:c.543_544delinsCT (MSH6)	NP_001268422.1:p.Val182Ter
NM_001281494.2:c.543_544delinsCT (MSH6)	NP_001268423.1:p.Val182Ter