Canonical Allele Identifier: CA658795761

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 525790
• ClinVar RCV Id: RCV000630092 ; RCV000708896 ; RCV000771471 ; RCV000986745 ; RCV001800833
• dbSNP Id: rs1553333753
• MyVariant Identifiers: chr2:g.48033785_48033788dup (hg19) ; chr2:g.47806646_47806649dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806646_47806649dup , CM000664.2:g.47806646_47806649dup	GRCh38
NC_000002.11:g.48033785_48033788dup , CM000664.1:g.48033785_48033788dup	GRCh37
NC_000002.10:g.47887289_47887292dup	NCBI36
NG_007111.1:g.28500_28503dup , LRG_219:g.28500_28503dup
NG_008397.1:g.104029_104032dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3699_3702dup (MSH6)	ENSP00000406248.2:p.Arg1235IlefsTer8
ENST00000420813.6:c.3699_3702dup (MSH6)	ENSP00000390382.2:p.Arg1235IlefsTer8
ENST00000455383.6:c.3699_3702dup (MSH6)	ENSP00000397484.2:p.Arg1235IlefsTer8
ENST00000700004.2:c.3612_3615dup (MSH6)	ENSP00000514752.2:p.Arg1206IlefsTer8
ENST00000699999.1:n.4670_4673dup (MSH6)
ENST00000700000.1:c.2430_2433dup (MSH6)	ENSP00000514749.1:p.Arg812IlefsTer8
ENST00000700002.1:c.4002_4005dup (MSH6)	ENSP00000514750.1:p.Arg1336IlefsTer8
ENST00000700003.1:c.1451_1454dup (MSH6)	ENSP00000514751.1:n.1451_1454dup
ENST00000700004.1:c.2769_2772dup (MSH6)	ENSP00000514752.1:p.Arg925IlefsTer8
ENST00000700005.1:n.2847_2850dup (MSH6)
ENST00000700006.1:n.5154_5157dup (MSH6)
ENST00000700007.1:n.2591_2594dup (MSH6)
ENST00000700008.1:n.2258_2261dup (MSH6)
ENST00000700009.1:n.2660_2663dup (MSH6)
ENST00000700010.1:n.1405_1408dup (MSH6)
ENST00000700011.1:n.3290_3293dup (MSH6)
ENST00000682451.1:n.4101_4104dup (FBXO11)
ENST00000684712.1:n.4363_4366dup (FBXO11)
ENST00000234420.11:c.3996_3999dup (MSH6) MANE Select	ENSP00000234420.5:p.Arg1334IlefsTer8
ENST00000540021.6:c.3606_3609dup (MSH6)	ENSP00000446475.1:p.Arg1204IlefsTer8
ENST00000652107.1:c.3699_3702dup (MSH6)	ENSP00000498629.1:p.Arg1235IlefsTer8
ENST00000673637.1:c.3699_3702dup (MSH6)	ENSP00000501310.1:p.Arg1235IlefsTer8
ENST00000234420.9:c.3996_3999dup (MSH6)	ENSP00000234420.4:p.Arg1334IlefsTer8
ENST00000405808.5:c.169+1548_169+1551dup (FBXO11)	ENSP00000385127.1:n.169+1548_169+1551dup
ENST00000434234.5:c.*124+1347_*124+1350dup (FBXO11)	ENSP00000402692.1:n.*124+1347_*124+1350du...
ENST00000445503.5:c.*3343_*3346dup (MSH6)	ENSP00000405294.1:n.*3343_*3346dup
ENST00000538136.1:c.3090_3093dup (MSH6)	ENSP00000438580.1:p.Arg1032IlefsTer8
ENST00000540021.5:c.3606_3609dup (MSH6)	ENSP00000446475.1:p.Arg1204IlefsTer8
ENST00000614496.4:c.3090_3093dup (MSH6)	ENSP00000477844.1:p.Arg1032IlefsTer8
ENST00000622629.4:c.897_900dup (MSH6)	ENSP00000482078.1:p.Arg301IlefsTer8
NM_000179.2:c.3996_3999dup , LRG_219t1:c.3996_3999dup (MSH6)	NP_000170.1:p.Arg1334IlefsTer8
NM_001281492.1:c.3606_3609dup (MSH6)	NP_001268421.1:p.Arg1204IlefsTer8
NM_001281493.1:c.3090_3093dup (MSH6)	NP_001268422.1:p.Arg1032IlefsTer8
NM_001281494.1:c.3090_3093dup (MSH6)	NP_001268423.1:p.Arg1032IlefsTer8
XM_005264271.1:c.3699_3702dup (MSH6)	XP_005264328.1:p.Arg1235IlefsTer8
XM_011532798.1:c.3813_3816dup (MSH6)	XP_011531100.1:p.Arg1273IlefsTer8
XM_011532799.1:c.3699_3702dup (MSH6)	XP_011531101.1:p.Arg1235IlefsTer8
XM_011532800.1:c.3699_3702dup (MSH6)	XP_011531102.1:p.Arg1235IlefsTer8
XM_024452819.1:c.4089_4092dup (MSH6)	XP_024308587.1:p.Arg1365IlefsTer8
XM_024452820.1:c.3906_3909dup (MSH6)	XP_024308588.1:p.Arg1304IlefsTer8
XM_024452821.1:c.3792_3795dup (MSH6)	XP_024308589.1:p.Arg1266IlefsTer8
XM_024452822.1:c.3183_3186dup (MSH6)	XP_024308590.1:p.Arg1063IlefsTer8
NM_000179.3:c.3996_3999dup (MSH6) MANE Select	NP_000170.1:p.Arg1334IlefsTer8
NM_001281492.2:c.3606_3609dup (MSH6)	NP_001268421.1:p.Arg1204IlefsTer8
NM_001281493.2:c.3090_3093dup (MSH6)	NP_001268422.1:p.Arg1032IlefsTer8
NM_001281494.2:c.3090_3093dup (MSH6)	NP_001268423.1:p.Arg1032IlefsTer8