Canonical Allele Identifier: CA16617713

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 418332
• ClinVar RCV Id: RCV000479515 ; RCV000695362 ; RCV002356765 ; RCV003449167 ; RCV003463975
• dbSNP Id: rs1553333500
• MyVariant Identifiers: chr2:g.48033667_48033670dupCTTG (hg19) ; chr2:g.47806528_47806531dupCTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806528_47806531dup , CM000664.2:g.47806528_47806531dup	GRCh38
NC_000002.11:g.48033667_48033670dup , CM000664.1:g.48033667_48033670dup	GRCh37
NC_000002.10:g.47887171_47887174dup	NCBI36
NG_007111.1:g.28382_28385dup , LRG_219:g.28382_28385dup
NG_008397.1:g.104146_104149dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3581_3584dup (MSH6)	ENSP00000406248.2:p.Pro1196LeufsTer3
ENST00000420813.6:c.3581_3584dup (MSH6)	ENSP00000390382.2:p.Pro1196LeufsTer3
ENST00000455383.6:c.3581_3584dup (MSH6)	ENSP00000397484.2:p.Pro1196LeufsTer3
ENST00000700004.2:c.3494_3497dup (MSH6)	ENSP00000514752.2:p.Pro1167LeufsTer3
ENST00000699999.1:n.4552_4555dup (MSH6)
ENST00000700000.1:c.2312_2315dup (MSH6)	ENSP00000514749.1:p.Pro773LeufsTer3
ENST00000700002.1:c.3884_3887dup (MSH6)	ENSP00000514750.1:p.Pro1297LeufsTer3
ENST00000700003.1:c.1333_1336dup (MSH6)	ENSP00000514751.1:n.1333_1336dup
ENST00000700004.1:c.2651_2654dup (MSH6)	ENSP00000514752.1:p.Pro886LeufsTer3
ENST00000700005.1:n.2729_2732dup (MSH6)
ENST00000700006.1:n.5036_5039dup (MSH6)
ENST00000700007.1:n.2473_2476dup (MSH6)
ENST00000700008.1:n.2140_2143dup (MSH6)
ENST00000700009.1:n.2542_2545dup (MSH6)
ENST00000700010.1:n.1287_1290dup (MSH6)
ENST00000700011.1:n.3172_3175dup (MSH6)
ENST00000682451.1:n.4218_4221dup (FBXO11)
ENST00000684712.1:n.4480_4483dup (FBXO11)
ENST00000234420.11:c.3878_3881dup (MSH6) MANE Select	ENSP00000234420.5:p.Pro1295LeufsTer3
ENST00000540021.6:c.3488_3491dup (MSH6)	ENSP00000446475.1:p.Pro1165LeufsTer3
ENST00000652107.1:c.3581_3584dup (MSH6)	ENSP00000498629.1:p.Pro1196LeufsTer3
ENST00000673637.1:c.3581_3584dup (MSH6)	ENSP00000501310.1:p.Pro1196LeufsTer3
ENST00000234420.9:c.3878_3881dup (MSH6)	ENSP00000234420.4:p.Pro1295LeufsTer3
ENST00000405808.5:c.169+1665_169+1668dup (FBXO11)	ENSP00000385127.1:n.169+1665_169+1668dup
ENST00000434234.5:c.*124+1464_*124+1467dup (FBXO11)	ENSP00000402692.1:n.*124+1464_*124+1467dup
ENST00000445503.5:c.*3225_*3228dup (MSH6)	ENSP00000405294.1:n.*3225_*3228dup
ENST00000538136.1:c.2972_2975dup (MSH6)	ENSP00000438580.1:p.Pro993LeufsTer3
ENST00000540021.5:c.3488_3491dup (MSH6)	ENSP00000446475.1:p.Pro1165LeufsTer3
ENST00000614496.4:c.2972_2975dup (MSH6)	ENSP00000477844.1:p.Pro993LeufsTer3
ENST00000622629.4:c.779_782dup (MSH6)	ENSP00000482078.1:p.Pro262LeufsTer3
NM_000179.2:c.3878_3881dup , LRG_219t1:c.3878_3881dup (MSH6)	NP_000170.1:p.Pro1295LeufsTer3
NM_001281492.1:c.3488_3491dup (MSH6)	NP_001268421.1:p.Pro1165LeufsTer3
NM_001281493.1:c.2972_2975dup (MSH6)	NP_001268422.1:p.Pro993LeufsTer3
NM_001281494.1:c.2972_2975dup (MSH6)	NP_001268423.1:p.Pro993LeufsTer3
XM_005264271.1:c.3581_3584dup (MSH6)	XP_005264328.1:p.Pro1196LeufsTer3
XM_011532798.1:c.3695_3698dup (MSH6)	XP_011531100.1:p.Pro1234LeufsTer3
XM_011532799.1:c.3581_3584dup (MSH6)	XP_011531101.1:p.Pro1196LeufsTer3
XM_011532800.1:c.3581_3584dup (MSH6)	XP_011531102.1:p.Pro1196LeufsTer3
XM_024452819.1:c.3971_3974dup (MSH6)	XP_024308587.1:p.Pro1326LeufsTer3
XM_024452820.1:c.3788_3791dup (MSH6)	XP_024308588.1:p.Pro1265LeufsTer3
XM_024452821.1:c.3674_3677dup (MSH6)	XP_024308589.1:p.Pro1227LeufsTer3
XM_024452822.1:c.3065_3068dup (MSH6)	XP_024308590.1:p.Pro1024LeufsTer3
NM_000179.3:c.3878_3881dup (MSH6) MANE Select	NP_000170.1:p.Pro1295LeufsTer3
NM_001281492.2:c.3488_3491dup (MSH6)	NP_001268421.1:p.Pro1165LeufsTer3
NM_001281493.2:c.2972_2975dup (MSH6)	NP_001268422.1:p.Pro993LeufsTer3
NM_001281494.2:c.2972_2975dup (MSH6)	NP_001268423.1:p.Pro993LeufsTer3