Canonical Allele Identifier: CA2580067359

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2021223
• ClinVar RCV Id: RCV002862490

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806365_47806398dup , CM000664.2:g.47806365_47806398dup	GRCh38
NC_000002.11:g.48033504_48033537dup , CM000664.1:g.48033504_48033537dup	GRCh37
NC_000002.10:g.47887008_47887041dup	NCBI36
NG_007111.1:g.28219_28252dup , LRG_219:g.28219_28252dup
NG_008397.1:g.104278_104311dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3504+7_3504+40dup (MSH6)	ENSP00000406248.2:n.3504+7_3504+40dup
ENST00000420813.6:c.3504+7_3504+40dup (MSH6)	ENSP00000390382.2:n.3504+7_3504+40dup
ENST00000455383.6:c.3504+7_3504+40dup (MSH6)	ENSP00000397484.2:n.3504+7_3504+40dup
ENST00000700004.2:c.3417+7_3417+40dup (MSH6)	ENSP00000514752.2:n.3417+7_3417+40dup
ENST00000699999.1:n.4475+7_4475+40dup (MSH6)
ENST00000700000.1:c.2235+7_2235+40dup (MSH6)	ENSP00000514749.1:n.2235+7_2235+40dup
ENST00000700002.1:c.3807+7_3807+40dup (MSH6)	ENSP00000514750.1:n.3807+7_3807+40dup
ENST00000700003.1:c.1256+7_1256+40dup (MSH6)	ENSP00000514751.1:n.1256+7_1256+40dup
ENST00000700004.1:c.2574+7_2574+40dup (MSH6)	ENSP00000514752.1:n.2574+7_2574+40dup
ENST00000700005.1:n.2652+7_2652+40dup (MSH6)
ENST00000700006.1:n.4959+7_4959+40dup (MSH6)
ENST00000700007.1:n.2396+7_2396+40dup (MSH6)
ENST00000700008.1:n.1977_2010dup (MSH6)
ENST00000700009.1:n.2465+7_2465+40dup (MSH6)
ENST00000700010.1:n.1210+7_1210+40dup (MSH6)
ENST00000700011.1:n.3095+7_3095+40dup (MSH6)
ENST00000682451.1:n.4350_4383dup (FBXO11)
ENST00000684712.1:n.4612_4645dup (FBXO11)
ENST00000234420.11:c.3801+7_3801+40dup (MSH6) MANE Select	ENSP00000234420.5:n.3801+7_3801+40dup
ENST00000540021.6:c.3411+7_3411+40dup (MSH6)	ENSP00000446475.1:n.3411+7_3411+40dup
ENST00000652107.1:c.3504+7_3504+40dup (MSH6)	ENSP00000498629.1:n.3504+7_3504+40dup
ENST00000673637.1:c.3504+7_3504+40dup (MSH6)	ENSP00000501310.1:n.3504+7_3504+40dup
ENST00000234420.9:c.3801+7_3801+40dup (MSH6)	ENSP00000234420.4:n.3801+7_3801+40dup
ENST00000405808.5:c.169+1797_169+1830dup (FBXO11)	ENSP00000385127.1:n.169+1797_169+1830dup
ENST00000434234.5:c.*124+1596_*124+1629dup (FBXO11)	ENSP00000402692.1:n.*124+1596_*124+1629dup
ENST00000445503.5:c.*3148+7_*3148+40dup (MSH6)	ENSP00000405294.1:n.*3148+7_*3148+40dup
ENST00000538136.1:c.2895+7_2895+40dup (MSH6)	ENSP00000438580.1:n.2895+7_2895+40dup
ENST00000540021.5:c.3411+7_3411+40dup (MSH6)	ENSP00000446475.1:n.3411+7_3411+40dup
ENST00000614496.4:c.2895+7_2895+40dup (MSH6)	ENSP00000477844.1:n.2895+7_2895+40dup
ENST00000622629.4:c.702+7_702+40dup (MSH6)	ENSP00000482078.1:n.702+7_702+40dup
NM_000179.2:c.3801+7_3801+40dup , LRG_219t1:c.3801+7_3801+40dup (MSH6)	NP_000170.1:n.3801+7_3801+40dup
NM_001281492.1:c.3411+7_3411+40dup (MSH6)	NP_001268421.1:n.3411+7_3411+40dup
NM_001281493.1:c.2895+7_2895+40dup (MSH6)	NP_001268422.1:n.2895+7_2895+40dup
NM_001281494.1:c.2895+7_2895+40dup (MSH6)	NP_001268423.1:n.2895+7_2895+40dup
XM_005264271.1:c.3504+7_3504+40dup (MSH6)	XP_005264328.1:n.3504+7_3504+40dup
XM_011532798.1:c.3618+7_3618+40dup (MSH6)	XP_011531100.1:n.3618+7_3618+40dup
XM_011532799.1:c.3504+7_3504+40dup (MSH6)	XP_011531101.1:n.3504+7_3504+40dup
XM_011532800.1:c.3504+7_3504+40dup (MSH6)	XP_011531102.1:n.3504+7_3504+40dup
XM_024452819.1:c.3808_3841dup (MSH6)	XP_024308587.1:p.Glu1281GlyfsTer12
XM_024452820.1:c.3625_3658dup (MSH6)	XP_024308588.1:p.Glu1220GlyfsTer12
XM_024452821.1:c.3511_3544dup (MSH6)	XP_024308589.1:p.Glu1182GlyfsTer12
XM_024452822.1:c.2902_2935dup (MSH6)	XP_024308590.1:p.Glu979GlyfsTer12
NM_000179.3:c.3801+7_3801+40dup (MSH6) MANE Select	NP_000170.1:n.3801+7_3801+40dup
NM_001281492.2:c.3411+7_3411+40dup (MSH6)	NP_001268421.1:n.3411+7_3411+40dup
NM_001281493.2:c.2895+7_2895+40dup (MSH6)	NP_001268422.1:n.2895+7_2895+40dup
NM_001281494.2:c.2895+7_2895+40dup (MSH6)	NP_001268423.1:n.2895+7_2895+40dup