Canonical Allele Identifier: CA658655688

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 479977
• ClinVar RCV Id: RCV000562443 ; RCV000811761 ; RCV003451223
• dbSNP Id: rs1553331366
• MyVariant Identifiers: chr2:g.48030638dup (hg19) ; chr2:g.47803499dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803499dup , CM000664.2:g.47803499dup	GRCh38
NC_000002.11:g.48030638dup , CM000664.1:g.48030638dup	GRCh37
NC_000002.10:g.47884142dup	NCBI36
NG_007111.1:g.25353dup , LRG_219:g.25353dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2955dup (MSH6)	ENSP00000406248.2:p.Thr986TyrfsTer8
ENST00000420813.6:c.2955dup (MSH6)	ENSP00000390382.2:p.Thr986TyrfsTer8
ENST00000455383.6:c.2955dup (MSH6)	ENSP00000397484.2:p.Thr986TyrfsTer8
ENST00000700004.2:c.3173-2119dup (MSH6)	ENSP00000514752.2:n.3173-2119dup
ENST00000699999.1:n.3336dup (MSH6)
ENST00000700000.1:c.1686dup (MSH6)	ENSP00000514749.1:p.Thr563TyrfsTer8
ENST00000700002.1:c.3258dup (MSH6)	ENSP00000514750.1:p.Thr1087TyrfsTer8
ENST00000700003.1:c.707dup (MSH6)	ENSP00000514751.1:n.707dup
ENST00000700004.1:c.2330-2119dup (MSH6)	ENSP00000514752.1:n.2330-2119dup
ENST00000700005.1:n.2103dup (MSH6)
ENST00000700006.1:n.2100dup (MSH6)
ENST00000700007.1:n.1257dup (MSH6)
ENST00000700008.1:n.831dup (MSH6)
ENST00000700009.1:n.830dup (MSH6)
ENST00000700010.1:n.661dup (MSH6)
ENST00000700011.1:n.732dup (MSH6)
ENST00000234420.11:c.3252dup (MSH6) MANE Select	ENSP00000234420.5:p.Thr1085TyrfsTer8
ENST00000540021.6:c.2862dup (MSH6)	ENSP00000446475.1:p.Thr955TyrfsTer8
ENST00000652107.1:c.2955dup (MSH6)	ENSP00000498629.1:p.Thr986TyrfsTer8
ENST00000673637.1:c.2955dup (MSH6)	ENSP00000501310.1:p.Thr986TyrfsTer8
ENST00000234420.9:c.3252dup (MSH6)	ENSP00000234420.4:p.Thr1085TyrfsTer8
ENST00000405808.5:c.169+4696dup (FBXO11)	ENSP00000385127.1:n.169+4696dup
ENST00000434234.5:c.*124+4495dup (FBXO11)	ENSP00000402692.1:n.*124+4495dup
ENST00000445503.5:c.*2599dup (MSH6)	ENSP00000405294.1:n.*2599dup
ENST00000538136.1:c.2346dup (MSH6)	ENSP00000438580.1:p.Thr783TyrfsTer8
ENST00000540021.5:c.2862dup (MSH6)	ENSP00000446475.1:p.Thr955TyrfsTer8
ENST00000614496.4:c.2346dup (MSH6)	ENSP00000477844.1:p.Thr783TyrfsTer8
ENST00000622629.4:c.156dup (MSH6)	ENSP00000482078.1:p.Thr53TyrfsTer8
NM_000179.2:c.3252dup , LRG_219t1:c.3252dup (MSH6)	NP_000170.1:p.Thr1085TyrfsTer8
NM_001281492.1:c.2862dup (MSH6)	NP_001268421.1:p.Thr955TyrfsTer8
NM_001281493.1:c.2346dup (MSH6)	NP_001268422.1:p.Thr783TyrfsTer8
NM_001281494.1:c.2346dup (MSH6)	NP_001268423.1:p.Thr783TyrfsTer8
XM_005264271.1:c.2955dup (MSH6)	XP_005264328.1:p.Thr986TyrfsTer8
XM_011532798.1:c.3069dup (MSH6)	XP_011531100.1:p.Thr1024TyrfsTer8
XM_011532799.1:c.2955dup (MSH6)	XP_011531101.1:p.Thr986TyrfsTer8
XM_011532800.1:c.2955dup (MSH6)	XP_011531102.1:p.Thr986TyrfsTer8
XM_024452819.1:c.3252dup (MSH6)	XP_024308587.1:p.Thr1085TyrfsTer8
XM_024452820.1:c.3069dup (MSH6)	XP_024308588.1:p.Thr1024TyrfsTer8
XM_024452821.1:c.2955dup (MSH6)	XP_024308589.1:p.Thr986TyrfsTer8
XM_024452822.1:c.2346dup (MSH6)	XP_024308590.1:p.Thr783TyrfsTer8
NM_000179.3:c.3252dup (MSH6) MANE Select	NP_000170.1:p.Thr1085TyrfsTer8
NM_001281492.2:c.2862dup (MSH6)	NP_001268421.1:p.Thr955TyrfsTer8
NM_001281493.2:c.2346dup (MSH6)	NP_001268422.1:p.Thr783TyrfsTer8
NM_001281494.2:c.2346dup (MSH6)	NP_001268423.1:p.Thr783TyrfsTer8