Canonical Allele Identifier: CA2580067287

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1802835
• ClinVar RCV Id: RCV002466110

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806254_47806290dup , CM000664.2:g.47806254_47806290dup	GRCh38
NC_000002.11:g.48033393_48033429dup , CM000664.1:g.48033393_48033429dup	GRCh37
NC_000002.10:g.47886897_47886933dup	NCBI36
NG_007111.1:g.28108_28144dup , LRG_219:g.28108_28144dup
NG_008397.1:g.104387_104423dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3400_3436dup (MSH6)	ENSP00000406248.2:p.Phe1146Ter
ENST00000420813.6:c.3400_3436dup (MSH6)	ENSP00000390382.2:p.Phe1146Ter
ENST00000455383.6:c.3400_3436dup (MSH6)	ENSP00000397484.2:p.Phe1146Ter
ENST00000700004.2:c.3313_3349dup (MSH6)	ENSP00000514752.2:p.Phe1117Ter
ENST00000699999.1:n.4371_4407dup (MSH6)
ENST00000700000.1:c.2131_2167dup (MSH6)	ENSP00000514749.1:p.Phe723Ter
ENST00000700002.1:c.3703_3739dup (MSH6)	ENSP00000514750.1:p.Phe1247Ter
ENST00000700003.1:c.1152_1188dup (MSH6)	ENSP00000514751.1:n.1152_1188dup
ENST00000700004.1:c.2470_2506dup (MSH6)	ENSP00000514752.1:p.Phe836Ter
ENST00000700005.1:n.2548_2584dup (MSH6)
ENST00000700006.1:n.4855_4891dup (MSH6)
ENST00000700007.1:n.2292_2328dup (MSH6)
ENST00000700008.1:n.1866_1902dup (MSH6)
ENST00000700009.1:n.2361_2397dup (MSH6)
ENST00000700010.1:n.1106_1142dup (MSH6)
ENST00000700011.1:n.2991_3027dup (MSH6)
ENST00000682451.1:n.4459_4495dup (FBXO11)
ENST00000684712.1:n.4721_4757dup (FBXO11)
ENST00000234420.11:c.3697_3733dup (MSH6) MANE Select	ENSP00000234420.5:p.Phe1245Ter
ENST00000540021.6:c.3307_3343dup (MSH6)	ENSP00000446475.1:p.Phe1115Ter
ENST00000652107.1:c.3400_3436dup (MSH6)	ENSP00000498629.1:p.Phe1146Ter
ENST00000673637.1:c.3400_3436dup (MSH6)	ENSP00000501310.1:p.Phe1146Ter
ENST00000234420.9:c.3697_3733dup (MSH6)	ENSP00000234420.4:p.Phe1245Ter
ENST00000405808.5:c.169+1906_169+1942dup (FBXO11)	ENSP00000385127.1:n.169+1906_169+1942dup
ENST00000434234.5:c.*124+1705_*124+1741dup (FBXO11)	ENSP00000402692.1:n.*124+1705_*124+1741du...
ENST00000445503.5:c.*3044_*3080dup (MSH6)	ENSP00000405294.1:n.*3044_*3080dup
ENST00000538136.1:c.2791_2827dup (MSH6)	ENSP00000438580.1:p.Phe943Ter
ENST00000540021.5:c.3307_3343dup (MSH6)	ENSP00000446475.1:p.Phe1115Ter
ENST00000614496.4:c.2791_2827dup (MSH6)	ENSP00000477844.1:p.Phe943Ter
ENST00000622629.4:c.601_637dup (MSH6)	ENSP00000482078.1:p.Phe213Ter
NM_000179.2:c.3697_3733dup , LRG_219t1:c.3697_3733dup (MSH6)	NP_000170.1:p.Phe1245Ter
NM_001281492.1:c.3307_3343dup (MSH6)	NP_001268421.1:p.Phe1115Ter
NM_001281493.1:c.2791_2827dup (MSH6)	NP_001268422.1:p.Phe943Ter
NM_001281494.1:c.2791_2827dup (MSH6)	NP_001268423.1:p.Phe943Ter
XM_005264271.1:c.3400_3436dup (MSH6)	XP_005264328.1:p.Phe1146Ter
XM_011532798.1:c.3514_3550dup (MSH6)	XP_011531100.1:p.Phe1184Ter
XM_011532799.1:c.3400_3436dup (MSH6)	XP_011531101.1:p.Phe1146Ter
XM_011532800.1:c.3400_3436dup (MSH6)	XP_011531102.1:p.Phe1146Ter
XM_024452819.1:c.3697_3733dup (MSH6)	XP_024308587.1:p.Phe1245Ter
XM_024452820.1:c.3514_3550dup (MSH6)	XP_024308588.1:p.Phe1184Ter
XM_024452821.1:c.3400_3436dup (MSH6)	XP_024308589.1:p.Phe1146Ter
XM_024452822.1:c.2791_2827dup (MSH6)	XP_024308590.1:p.Phe943Ter
NM_000179.3:c.3697_3733dup (MSH6) MANE Select	NP_000170.1:p.Phe1245Ter
NM_001281492.2:c.3307_3343dup (MSH6)	NP_001268421.1:p.Phe1115Ter
NM_001281493.2:c.2791_2827dup (MSH6)	NP_001268422.1:p.Phe943Ter
NM_001281494.2:c.2791_2827dup (MSH6)	NP_001268423.1:p.Phe943Ter