Canonical Allele Identifier: CA2580067279

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2129130
• ClinVar RCV Id: RCV003040386 ; RCV003170944

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798964dup , CM000664.2:g.47798964dup	GRCh38
NC_000002.11:g.48026103dup , CM000664.1:g.48026103dup	GRCh37
NC_000002.10:g.47879607dup	NCBI36
NG_007111.1:g.20818dup , LRG_219:g.20818dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.684dup (MSH6)	ENSP00000406248.2:p.Ser229Ter
ENST00000420813.6:c.684dup (MSH6)	ENSP00000390382.2:p.Ser229Ter
ENST00000455383.6:c.684dup (MSH6)	ENSP00000397484.2:p.Ser229Ter
ENST00000700004.2:c.981dup (MSH6)	ENSP00000514752.2:p.Ser328Ter
ENST00000699999.1:n.1065dup (MSH6)
ENST00000700000.1:c.981dup (MSH6)	ENSP00000514749.1:p.Ser328Ter
ENST00000700002.1:c.987dup (MSH6)	ENSP00000514750.1:p.Ser330Ter
ENST00000700003.1:c.627+2901dup (MSH6)	ENSP00000514751.1:n.627+2901dup
ENST00000700004.1:c.138dup (MSH6)	ENSP00000514752.1:p.Ser47Ter
ENST00000234420.11:c.981dup (MSH6) MANE Select	ENSP00000234420.5:p.Ser328Ter
ENST00000540021.6:c.591dup (MSH6)	ENSP00000446475.1:p.Ser198Ter
ENST00000652107.1:c.684dup (MSH6)	ENSP00000498629.1:p.Ser229Ter
ENST00000673637.1:c.684dup (MSH6)	ENSP00000501310.1:p.Ser229Ter
ENST00000234420.9:c.981dup (MSH6)	ENSP00000234420.4:p.Ser328Ter
ENST00000405808.5:c.169+9231dup (FBXO11)	ENSP00000385127.1:n.169+9231dup
ENST00000434234.5:c.*124+9030dup (FBXO11)	ENSP00000402692.1:n.*124+9030dup
ENST00000445503.5:c.*328dup (MSH6)	ENSP00000405294.1:n.*328dup
ENST00000538136.1:c.75dup (MSH6)	ENSP00000438580.1:p.Ser26Ter
ENST00000540021.5:c.591dup (MSH6)	ENSP00000446475.1:p.Ser198Ter
ENST00000614496.4:c.75dup (MSH6)	ENSP00000477844.1:p.Ser26Ter
ENST00000616033.4:c.978dup (MSH6)	ENSP00000480261.1:p.Ser327Ter
ENST00000622629.4:c.-2116dup (MSH6)	ENSP00000482078.1:n.-2116dup
NM_000179.2:c.981dup , LRG_219t1:c.981dup (MSH6)	NP_000170.1:p.Ser328Ter
NM_001281492.1:c.591dup (MSH6)	NP_001268421.1:p.Ser198Ter
NM_001281493.1:c.75dup (MSH6)	NP_001268422.1:p.Ser26Ter
NM_001281494.1:c.75dup (MSH6)	NP_001268423.1:p.Ser26Ter
XM_005264271.1:c.684dup (MSH6)	XP_005264328.1:p.Ser229Ter
XM_011532798.1:c.798dup (MSH6)	XP_011531100.1:p.Ser267Ter
XM_011532799.1:c.684dup (MSH6)	XP_011531101.1:p.Ser229Ter
XM_011532800.1:c.684dup (MSH6)	XP_011531102.1:p.Ser229Ter
XM_024452819.1:c.981dup (MSH6)	XP_024308587.1:p.Ser328Ter
XM_024452820.1:c.798dup (MSH6)	XP_024308588.1:p.Ser267Ter
XM_024452821.1:c.684dup (MSH6)	XP_024308589.1:p.Ser229Ter
XM_024452822.1:c.75dup (MSH6)	XP_024308590.1:p.Ser26Ter
NM_000179.3:c.981dup (MSH6) MANE Select	NP_000170.1:p.Ser328Ter
NM_001281492.2:c.591dup (MSH6)	NP_001268421.1:p.Ser198Ter
NM_001281493.2:c.75dup (MSH6)	NP_001268422.1:p.Ser26Ter
NM_001281494.2:c.75dup (MSH6)	NP_001268423.1:p.Ser26Ter