Canonical Allele Identifier: CA2697548072

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2773665
• ClinVar RCV Id: RCV003585638

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806279dup , CM000664.2:g.47806279dup	GRCh38
NC_000002.11:g.48033418dup , CM000664.1:g.48033418dup	GRCh37
NC_000002.10:g.47886922dup	NCBI36
NG_007111.1:g.28133dup , LRG_219:g.28133dup
NG_008397.1:g.104397dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3425dup (MSH6)	ENSP00000406248.2:p.Cys1142TrpfsTer?
ENST00000420813.6:c.3425dup (MSH6)	ENSP00000390382.2:p.Cys1142TrpfsTer?
ENST00000455383.6:c.3425dup (MSH6)	ENSP00000397484.2:p.Cys1142TrpfsTer?
ENST00000700004.2:c.3338dup (MSH6)	ENSP00000514752.2:p.Cys1113TrpfsTer?
ENST00000699999.1:n.4396dup (MSH6)
ENST00000700000.1:c.2156dup (MSH6)	ENSP00000514749.1:p.Cys719TrpfsTer?
ENST00000700002.1:c.3728dup (MSH6)	ENSP00000514750.1:p.Cys1243TrpfsTer?
ENST00000700003.1:c.1177dup (MSH6)	ENSP00000514751.1:n.1177dup
ENST00000700004.1:c.2495dup (MSH6)	ENSP00000514752.1:p.Cys832TrpfsTer?
ENST00000700005.1:n.2573dup (MSH6)
ENST00000700006.1:n.4880dup (MSH6)
ENST00000700007.1:n.2317dup (MSH6)
ENST00000700008.1:n.1891dup (MSH6)
ENST00000700009.1:n.2386dup (MSH6)
ENST00000700010.1:n.1131dup (MSH6)
ENST00000700011.1:n.3016dup (MSH6)
ENST00000682451.1:n.4469dup (FBXO11)
ENST00000684712.1:n.4731dup (FBXO11)
ENST00000234420.11:c.3722dup (MSH6) MANE Select	ENSP00000234420.5:p.Cys1241TrpfsTer?
ENST00000540021.6:c.3332dup (MSH6)	ENSP00000446475.1:p.Cys1111TrpfsTer?
ENST00000652107.1:c.3425dup (MSH6)	ENSP00000498629.1:p.Cys1142TrpfsTer?
ENST00000673637.1:c.3425dup (MSH6)	ENSP00000501310.1:p.Cys1142TrpfsTer?
ENST00000234420.9:c.3722dup (MSH6)	ENSP00000234420.4:p.Cys1241TrpfsTer?
ENST00000405808.5:c.169+1916dup (FBXO11)	ENSP00000385127.1:n.169+1916dup
ENST00000434234.5:c.*124+1715dup (FBXO11)	ENSP00000402692.1:n.*124+1715dup
ENST00000445503.5:c.*3069dup (MSH6)	ENSP00000405294.1:n.*3069dup
ENST00000538136.1:c.2816dup (MSH6)	ENSP00000438580.1:p.Cys939TrpfsTer?
ENST00000540021.5:c.3332dup (MSH6)	ENSP00000446475.1:p.Cys1111TrpfsTer?
ENST00000614496.4:c.2816dup (MSH6)	ENSP00000477844.1:p.Cys939TrpfsTer?
ENST00000622629.4:c.626dup (MSH6)	ENSP00000482078.1:p.Cys209TrpfsTer12
NM_000179.2:c.3722dup , LRG_219t1:c.3722dup (MSH6)	NP_000170.1:p.Cys1241TrpfsTer?
NM_001281492.1:c.3332dup (MSH6)	NP_001268421.1:p.Cys1111TrpfsTer?
NM_001281493.1:c.2816dup (MSH6)	NP_001268422.1:p.Cys939TrpfsTer?
NM_001281494.1:c.2816dup (MSH6)	NP_001268423.1:p.Cys939TrpfsTer?
XM_005264271.1:c.3425dup (MSH6)	XP_005264328.1:p.Cys1142TrpfsTer?
XM_011532798.1:c.3539dup (MSH6)	XP_011531100.1:p.Cys1180TrpfsTer?
XM_011532799.1:c.3425dup (MSH6)	XP_011531101.1:p.Cys1142TrpfsTer?
XM_011532800.1:c.3425dup (MSH6)	XP_011531102.1:p.Cys1142TrpfsTer?
XM_024452819.1:c.3722dup (MSH6)	XP_024308587.1:p.Cys1241TrpfsTer?
XM_024452820.1:c.3539dup (MSH6)	XP_024308588.1:p.Cys1180TrpfsTer?
XM_024452821.1:c.3425dup (MSH6)	XP_024308589.1:p.Cys1142TrpfsTer?
XM_024452822.1:c.2816dup (MSH6)	XP_024308590.1:p.Cys939TrpfsTer?
NM_000179.3:c.3722dup (MSH6) MANE Select	NP_000170.1:p.Cys1241TrpfsTer?
NM_001281492.2:c.3332dup (MSH6)	NP_001268421.1:p.Cys1111TrpfsTer?
NM_001281493.2:c.2816dup (MSH6)	NP_001268422.1:p.Cys939TrpfsTer?
NM_001281494.2:c.2816dup (MSH6)	NP_001268423.1:p.Cys939TrpfsTer?