Canonical Allele Identifier: CA073501

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2133945
• ClinVar RCV Id: RCV003044687 ; RCV004070114
• dbSNP Id: rs267608062
• ExAC: 2:48025967 T / TGGG
• gnomAD v2: 2-48025967-T-TGGG
• gnomAD v3: 2-47798828-T-TGGG
• gnomAD v4: 2-47798828-T-TGGG
• MyVariant Identifiers: chr2:g.48025967_48025968insGGG (hg19) ; chr2:g.47798828_47798829insGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798831_47798833dup , CM000664.2:g.47798831_47798833dup	GRCh38
NC_000002.11:g.48025970_48025972dup , CM000664.1:g.48025970_48025972dup	GRCh37
NC_000002.10:g.47879474_47879476dup	NCBI36
NG_007111.1:g.20685_20687dup , LRG_219:g.20685_20687dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.551_553dup (MSH6)	ENSP00000406248.2:p.Gly184_Asp185insGly
ENST00000420813.6:c.551_553dup (MSH6)	ENSP00000390382.2:p.Gly184_Asp185insGly
ENST00000455383.6:c.551_553dup (MSH6)	ENSP00000397484.2:p.Gly184_Asp185insGly
ENST00000700004.2:c.848_850dup (MSH6)	ENSP00000514752.2:p.Gly283_Asp284insGly
ENST00000699999.1:n.932_934dup (MSH6)
ENST00000700000.1:c.848_850dup (MSH6)	ENSP00000514749.1:p.Gly283_Asp284insGly
ENST00000700002.1:c.854_856dup (MSH6)	ENSP00000514750.1:p.Gly285_Asp286insGly
ENST00000700003.1:c.627+2768_627+2770dup (MSH6)	ENSP00000514751.1:n.627+2768_627+2770dup
ENST00000700004.1:c.5_7dup (MSH6)	ENSP00000514752.1:p.Gly2_Asp3insGly
ENST00000234420.11:c.848_850dup (MSH6) MANE Select	ENSP00000234420.5:p.Gly283_Asp284insGly
ENST00000540021.6:c.458_460dup (MSH6)	ENSP00000446475.1:p.Gly153_Asp154insGly
ENST00000652107.1:c.551_553dup (MSH6)	ENSP00000498629.1:p.Gly184_Asp185insGly
ENST00000673637.1:c.551_553dup (MSH6)	ENSP00000501310.1:p.Gly184_Asp185insGly
ENST00000673922.1:n.570_572dup (MSH6)
ENST00000234420.9:c.848_850dup (MSH6)	ENSP00000234420.4:p.Gly283_Asp284insGly
ENST00000405808.5:c.169+9364_169+9366dup (FBXO11)	ENSP00000385127.1:n.169+9364_169+9366dup
ENST00000434234.5:c.*124+9163_*124+9165dup (FBXO11)	ENSP00000402692.1:n.*124+9163_*124+9165dup
ENST00000445503.5:c.*195_*197dup (MSH6)	ENSP00000405294.1:n.*195_*197dup
ENST00000456246.1:c.*336_*338dup (MSH6)	ENSP00000410570.1:n.*336_*338dup
ENST00000538136.1:c.-59_-57dup (MSH6)	ENSP00000438580.1:n.-59_-57dup
ENST00000540021.5:c.458_460dup (MSH6)	ENSP00000446475.1:p.Gly153_Asp154insGly
ENST00000614496.4:c.-59_-57dup (MSH6)	ENSP00000477844.1:n.-59_-57dup
ENST00000616033.4:c.845_847dup (MSH6)	ENSP00000480261.1:p.Gly282_Asp283insGly
ENST00000622629.4:c.-2249_-2247dup (MSH6)	ENSP00000482078.1:n.-2249_-2247dup
NM_000179.2:c.848_850dup , LRG_219t1:c.848_850dup (MSH6)	NP_000170.1:p.Gly283_Asp284insGly
NM_001281492.1:c.458_460dup (MSH6)	NP_001268421.1:p.Gly153_Asp154insGly
NM_001281493.1:c.-59_-57dup (MSH6)	NP_001268422.1:n.-59_-57dup
NM_001281494.1:c.-59_-57dup (MSH6)	NP_001268423.1:n.-59_-57dup
XM_005264271.1:c.551_553dup (MSH6)	XP_005264328.1:p.Gly184_Asp185insGly
XM_011532798.1:c.665_667dup (MSH6)	XP_011531100.1:p.Gly222_Asp223insGly
XM_011532799.1:c.551_553dup (MSH6)	XP_011531101.1:p.Gly184_Asp185insGly
XM_011532800.1:c.551_553dup (MSH6)	XP_011531102.1:p.Gly184_Asp185insGly
XM_024452819.1:c.848_850dup (MSH6)	XP_024308587.1:p.Gly283_Asp284insGly
XM_024452820.1:c.665_667dup (MSH6)	XP_024308588.1:p.Gly222_Asp223insGly
XM_024452821.1:c.551_553dup (MSH6)	XP_024308589.1:p.Gly184_Asp185insGly
XM_024452822.1:c.-59_-57dup (MSH6)	XP_024308590.1:n.-59_-57dup
NM_000179.3:c.848_850dup (MSH6) MANE Select	NP_000170.1:p.Gly283_Asp284insGly
NM_001281492.2:c.458_460dup (MSH6)	NP_001268421.1:p.Gly153_Asp154insGly
NM_001281493.2:c.-59_-57dup (MSH6)	NP_001268422.1:n.-59_-57dup
NM_001281494.2:c.-59_-57dup (MSH6)	NP_001268423.1:n.-59_-57dup