Canonical Allele Identifier: CA2658949752

Gene: MSH6 FBXO11

Linked Data

• gnomAD v4: 2-47798668-G-GAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798671_47798674dup , CM000664.2:g.47798671_47798674dup	GRCh38
NC_000002.11:g.48025810_48025813dup , CM000664.1:g.48025810_48025813dup	GRCh37
NC_000002.10:g.47879314_47879317dup	NCBI36
NG_007111.1:g.20525_20528dup , LRG_219:g.20525_20528dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.391_394dup (MSH6)	ENSP00000406248.2:p.Val132GlyfsTer5
ENST00000420813.6:c.391_394dup (MSH6)	ENSP00000390382.2:p.Val132GlyfsTer5
ENST00000455383.6:c.391_394dup (MSH6)	ENSP00000397484.2:p.Val132GlyfsTer5
ENST00000700004.2:c.688_691dup (MSH6)	ENSP00000514752.2:p.Val231GlyfsTer5
ENST00000699999.1:n.772_775dup (MSH6)
ENST00000700000.1:c.688_691dup (MSH6)	ENSP00000514749.1:p.Val231GlyfsTer5
ENST00000700002.1:c.694_697dup (MSH6)	ENSP00000514750.1:p.Val233GlyfsTer5
ENST00000700003.1:c.627+2608_627+2611dup (MSH6)	ENSP00000514751.1:n.627+2608_627+2611dup
ENST00000234420.11:c.688_691dup (MSH6) MANE Select	ENSP00000234420.5:p.Val231GlyfsTer5
ENST00000540021.6:c.298_301dup (MSH6)	ENSP00000446475.1:p.Val101GlyfsTer5
ENST00000652107.1:c.391_394dup (MSH6)	ENSP00000498629.1:p.Val132GlyfsTer5
ENST00000673637.1:c.391_394dup (MSH6)	ENSP00000501310.1:p.Val132GlyfsTer5
ENST00000673922.1:n.410_413dup (MSH6)
ENST00000234420.9:c.688_691dup (MSH6)	ENSP00000234420.4:p.Val231GlyfsTer5
ENST00000405808.5:c.170-9232_170-9229dup (FBXO11)	ENSP00000385127.1:n.170-9232_170-9229dup
ENST00000411819.1:c.391_394dup (MSH6)	ENSP00000406248.1:p.Val132GlyfsTer5
ENST00000434234.5:c.*125-9232_*125-9229dup (FBXO11)	ENSP00000402692.1:n.*125-9232_*125-9229dup
ENST00000445503.5:c.*35_*38dup (MSH6)	ENSP00000405294.1:n.*35_*38dup
ENST00000456246.1:c.*176_*179dup (MSH6)	ENSP00000410570.1:n.*176_*179dup
ENST00000538136.1:c.-219_-216dup (MSH6)	ENSP00000438580.1:n.-219_-216dup
ENST00000540021.5:c.298_301dup (MSH6)	ENSP00000446475.1:p.Val101GlyfsTer5
ENST00000614496.4:c.-219_-216dup (MSH6)	ENSP00000477844.1:n.-219_-216dup
ENST00000616033.4:c.685_688dup (MSH6)	ENSP00000480261.1:p.Val230GlyfsTer5
ENST00000622629.4:c.-2409_-2406dup (MSH6)	ENSP00000482078.1:n.-2409_-2406dup
NM_000179.2:c.688_691dup , LRG_219t1:c.688_691dup (MSH6)	NP_000170.1:p.Val231GlyfsTer5
NM_001281492.1:c.298_301dup (MSH6)	NP_001268421.1:p.Val101GlyfsTer5
NM_001281493.1:c.-219_-216dup (MSH6)	NP_001268422.1:n.-219_-216dup
NM_001281494.1:c.-219_-216dup (MSH6)	NP_001268423.1:n.-219_-216dup
XM_005264271.1:c.391_394dup (MSH6)	XP_005264328.1:p.Val132GlyfsTer5
XM_011532798.1:c.505_508dup (MSH6)	XP_011531100.1:p.Val170GlyfsTer5
XM_011532799.1:c.391_394dup (MSH6)	XP_011531101.1:p.Val132GlyfsTer5
XM_011532800.1:c.391_394dup (MSH6)	XP_011531102.1:p.Val132GlyfsTer5
XM_024452819.1:c.688_691dup (MSH6)	XP_024308587.1:p.Val231GlyfsTer5
XM_024452820.1:c.505_508dup (MSH6)	XP_024308588.1:p.Val170GlyfsTer5
XM_024452821.1:c.391_394dup (MSH6)	XP_024308589.1:p.Val132GlyfsTer5
XM_024452822.1:c.-219_-216dup (MSH6)	XP_024308590.1:n.-219_-216dup
NM_000179.3:c.688_691dup (MSH6) MANE Select	NP_000170.1:p.Val231GlyfsTer5
NM_001281492.2:c.298_301dup (MSH6)	NP_001268421.1:p.Val101GlyfsTer5
NM_001281493.2:c.-219_-216dup (MSH6)	NP_001268422.1:n.-219_-216dup
NM_001281494.2:c.-219_-216dup (MSH6)	NP_001268423.1:n.-219_-216dup