Canonical Allele Identifier: CA1139768315

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1428564
• ClinVar RCV Id: RCV001964910 ; RCV004041858
• dbSNP Id: rs2104542786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806296_47806300dup , CM000664.2:g.47806296_47806300dup	GRCh38
NC_000002.11:g.48033435_48033439dup , CM000664.1:g.48033435_48033439dup	GRCh37
NC_000002.10:g.47886939_47886943dup	NCBI36
NG_007111.1:g.28150_28154dup , LRG_219:g.28150_28154dup
NG_008397.1:g.104379_104383dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3442_3446dup (MSH6)	ENSP00000406248.2:p.His1149GlnfsTer7
ENST00000420813.6:c.3442_3446dup (MSH6)	ENSP00000390382.2:p.His1149GlnfsTer7
ENST00000455383.6:c.3442_3446dup (MSH6)	ENSP00000397484.2:p.His1149GlnfsTer7
ENST00000700004.2:c.3355_3359dup (MSH6)	ENSP00000514752.2:p.His1120GlnfsTer7
ENST00000699999.1:n.4413_4417dup (MSH6)
ENST00000700000.1:c.2173_2177dup (MSH6)	ENSP00000514749.1:p.His726GlnfsTer7
ENST00000700002.1:c.3745_3749dup (MSH6)	ENSP00000514750.1:p.His1250GlnfsTer7
ENST00000700003.1:c.1194_1198dup (MSH6)	ENSP00000514751.1:n.1194_1198dup
ENST00000700004.1:c.2512_2516dup (MSH6)	ENSP00000514752.1:p.His839GlnfsTer7
ENST00000700005.1:n.2590_2594dup (MSH6)
ENST00000700006.1:n.4897_4901dup (MSH6)
ENST00000700007.1:n.2334_2338dup (MSH6)
ENST00000700008.1:n.1908_1912dup (MSH6)
ENST00000700009.1:n.2403_2407dup (MSH6)
ENST00000700010.1:n.1148_1152dup (MSH6)
ENST00000700011.1:n.3033_3037dup (MSH6)
ENST00000682451.1:n.4451_4455dup (FBXO11)
ENST00000684712.1:n.4713_4717dup (FBXO11)
ENST00000234420.11:c.3739_3743dup (MSH6) MANE Select	ENSP00000234420.5:p.His1248GlnfsTer7
ENST00000540021.6:c.3349_3353dup (MSH6)	ENSP00000446475.1:p.His1118GlnfsTer7
ENST00000652107.1:c.3442_3446dup (MSH6)	ENSP00000498629.1:p.His1149GlnfsTer7
ENST00000673637.1:c.3442_3446dup (MSH6)	ENSP00000501310.1:p.His1149GlnfsTer7
ENST00000234420.9:c.3739_3743dup (MSH6)	ENSP00000234420.4:p.His1248GlnfsTer7
ENST00000405808.5:c.169+1898_169+1902dup (FBXO11)	ENSP00000385127.1:n.169+1898_169+1902dup
ENST00000434234.5:c.*124+1697_*124+1701dup (FBXO11)	ENSP00000402692.1:n.*124+1697_*124+1701dup
ENST00000445503.5:c.*3086_*3090dup (MSH6)	ENSP00000405294.1:n.*3086_*3090dup
ENST00000538136.1:c.2833_2837dup (MSH6)	ENSP00000438580.1:p.His946GlnfsTer7
ENST00000540021.5:c.3349_3353dup (MSH6)	ENSP00000446475.1:p.His1118GlnfsTer7
ENST00000614496.4:c.2833_2837dup (MSH6)	ENSP00000477844.1:p.His946GlnfsTer7
ENST00000622629.4:c.643_647dup (MSH6)	ENSP00000482078.1:p.His216GlnfsTer18
NM_000179.2:c.3739_3743dup , LRG_219t1:c.3739_3743dup (MSH6)	NP_000170.1:p.His1248GlnfsTer7
NM_001281492.1:c.3349_3353dup (MSH6)	NP_001268421.1:p.His1118GlnfsTer7
NM_001281493.1:c.2833_2837dup (MSH6)	NP_001268422.1:p.His946GlnfsTer7
NM_001281494.1:c.2833_2837dup (MSH6)	NP_001268423.1:p.His946GlnfsTer7
XM_005264271.1:c.3442_3446dup (MSH6)	XP_005264328.1:p.His1149GlnfsTer7
XM_011532798.1:c.3556_3560dup (MSH6)	XP_011531100.1:p.His1187GlnfsTer7
XM_011532799.1:c.3442_3446dup (MSH6)	XP_011531101.1:p.His1149GlnfsTer7
XM_011532800.1:c.3442_3446dup (MSH6)	XP_011531102.1:p.His1149GlnfsTer7
XM_024452819.1:c.3739_3743dup (MSH6)	XP_024308587.1:p.His1248GlnfsTer7
XM_024452820.1:c.3556_3560dup (MSH6)	XP_024308588.1:p.His1187GlnfsTer7
XM_024452821.1:c.3442_3446dup (MSH6)	XP_024308589.1:p.His1149GlnfsTer7
XM_024452822.1:c.2833_2837dup (MSH6)	XP_024308590.1:p.His946GlnfsTer7
NM_000179.3:c.3739_3743dup (MSH6) MANE Select	NP_000170.1:p.His1248GlnfsTer7
NM_001281492.2:c.3349_3353dup (MSH6)	NP_001268421.1:p.His1118GlnfsTer7
NM_001281493.2:c.2833_2837dup (MSH6)	NP_001268422.1:p.His946GlnfsTer7
NM_001281494.2:c.2833_2837dup (MSH6)	NP_001268423.1:p.His946GlnfsTer7