Canonical Allele Identifier: CA2695200648

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673601
• ClinVar RCV Id: RCV003450238 ; RCV003585398

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803437_47803471dup , CM000664.2:g.47803437_47803471dup	GRCh38
NC_000002.11:g.48030576_48030610dup , CM000664.1:g.48030576_48030610dup	GRCh37
NC_000002.10:g.47884080_47884114dup	NCBI36
NG_007111.1:g.25291_25325dup , LRG_219:g.25291_25325dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.2893_2927dup (MSH6)	ENSP00000406248.2:p.Cys976TrpfsTer16
ENST00000420813.6:c.2893_2927dup (MSH6)	ENSP00000390382.2:p.Cys976TrpfsTer16
ENST00000455383.6:c.2893_2927dup (MSH6)	ENSP00000397484.2:p.Cys976TrpfsTer16
ENST00000700004.2:c.3173-2181_3173-2147dup (MSH6)	ENSP00000514752.2:n.3173-2181_3173-2147dup
ENST00000699999.1:n.3274_3308dup (MSH6)
ENST00000700000.1:c.1624_1658dup (MSH6)	ENSP00000514749.1:p.Cys553TrpfsTer16
ENST00000700002.1:c.3196_3230dup (MSH6)	ENSP00000514750.1:p.Cys1077TrpfsTer16
ENST00000700003.1:c.645_679dup (MSH6)	ENSP00000514751.1:p.Val227GlyfsTer2
ENST00000700004.1:c.2330-2181_2330-2147dup (MSH6)	ENSP00000514752.1:n.2330-2181_2330-2147dup
ENST00000700005.1:n.2041_2075dup (MSH6)
ENST00000700006.1:n.2038_2072dup (MSH6)
ENST00000700007.1:n.1195_1229dup (MSH6)
ENST00000700008.1:n.769_803dup (MSH6)
ENST00000700009.1:n.768_802dup (MSH6)
ENST00000700010.1:n.599_633dup (MSH6)
ENST00000700011.1:n.670_704dup (MSH6)
ENST00000234420.11:c.3190_3224dup (MSH6) MANE Select	ENSP00000234420.5:p.Cys1075TrpfsTer16
ENST00000540021.6:c.2800_2834dup (MSH6)	ENSP00000446475.1:p.Cys945TrpfsTer16
ENST00000652107.1:c.2893_2927dup (MSH6)	ENSP00000498629.1:p.Cys976TrpfsTer16
ENST00000673637.1:c.2893_2927dup (MSH6)	ENSP00000501310.1:p.Cys976TrpfsTer16
ENST00000234420.9:c.3190_3224dup (MSH6)	ENSP00000234420.4:p.Cys1075TrpfsTer16
ENST00000405808.5:c.169+4726_169+4760dup (FBXO11)	ENSP00000385127.1:n.169+4726_169+4760dup
ENST00000434234.5:c.*124+4525_*124+4559dup (FBXO11)	ENSP00000402692.1:n.*124+4525_*124+4559dup
ENST00000445503.5:c.*2537_*2571dup (MSH6)	ENSP00000405294.1:n.*2537_*2571dup
ENST00000538136.1:c.2284_2318dup (MSH6)	ENSP00000438580.1:p.Cys773TrpfsTer16
ENST00000540021.5:c.2800_2834dup (MSH6)	ENSP00000446475.1:p.Cys945TrpfsTer16
ENST00000614496.4:c.2284_2318dup (MSH6)	ENSP00000477844.1:p.Cys773TrpfsTer16
ENST00000622629.4:c.94_128dup (MSH6)	ENSP00000482078.1:p.Cys43TrpfsTer16
NM_000179.2:c.3190_3224dup , LRG_219t1:c.3190_3224dup (MSH6)	NP_000170.1:p.Cys1075TrpfsTer16
NM_001281492.1:c.2800_2834dup (MSH6)	NP_001268421.1:p.Cys945TrpfsTer16
NM_001281493.1:c.2284_2318dup (MSH6)	NP_001268422.1:p.Cys773TrpfsTer16
NM_001281494.1:c.2284_2318dup (MSH6)	NP_001268423.1:p.Cys773TrpfsTer16
XM_005264271.1:c.2893_2927dup (MSH6)	XP_005264328.1:p.Cys976TrpfsTer16
XM_011532798.1:c.3007_3041dup (MSH6)	XP_011531100.1:p.Cys1014TrpfsTer16
XM_011532799.1:c.2893_2927dup (MSH6)	XP_011531101.1:p.Cys976TrpfsTer16
XM_011532800.1:c.2893_2927dup (MSH6)	XP_011531102.1:p.Cys976TrpfsTer16
XM_024452819.1:c.3190_3224dup (MSH6)	XP_024308587.1:p.Cys1075TrpfsTer16
XM_024452820.1:c.3007_3041dup (MSH6)	XP_024308588.1:p.Cys1014TrpfsTer16
XM_024452821.1:c.2893_2927dup (MSH6)	XP_024308589.1:p.Cys976TrpfsTer16
XM_024452822.1:c.2284_2318dup (MSH6)	XP_024308590.1:p.Cys773TrpfsTer16
NM_000179.3:c.3190_3224dup (MSH6) MANE Select	NP_000170.1:p.Cys1075TrpfsTer16
NM_001281492.2:c.2800_2834dup (MSH6)	NP_001268421.1:p.Cys945TrpfsTer16
NM_001281493.2:c.2284_2318dup (MSH6)	NP_001268422.1:p.Cys773TrpfsTer16
NM_001281494.2:c.2284_2318dup (MSH6)	NP_001268423.1:p.Cys773TrpfsTer16