Canonical Allele Identifier: CA2739274452

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2847498
• ClinVar RCV Id: RCV003758536

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806806_47806809dup , CM000664.2:g.47806806_47806809dup	GRCh38
NC_000002.11:g.48033945_48033948dup , CM000664.1:g.48033945_48033948dup	GRCh37
NC_000002.10:g.47887449_47887452dup	NCBI36
NG_007111.1:g.28660_28663dup , LRG_219:g.28660_28663dup
NG_008397.1:g.103867_103870dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3732_3735dup (MSH6)	ENSP00000406248.2:p.Val1246AsnfsTer5
ENST00000420813.6:c.3732_3735dup (MSH6)	ENSP00000390382.2:p.Val1246AsnfsTer5
ENST00000455383.6:c.3732_3735dup (MSH6)	ENSP00000397484.2:p.Val1246AsnfsTer5
ENST00000700004.2:c.3645_3648dup (MSH6)	ENSP00000514752.2:p.Val1217AsnfsTer5
ENST00000699999.1:n.4703_4706dup (MSH6)
ENST00000700000.1:c.2463_2466dup (MSH6)	ENSP00000514749.1:p.Val823AsnfsTer5
ENST00000700002.1:c.4035_4038dup (MSH6)	ENSP00000514750.1:p.Val1347AsnfsTer5
ENST00000700003.1:c.1484_1487dup (MSH6)	ENSP00000514751.1:n.1484_1487dup
ENST00000700004.1:c.2802_2805dup (MSH6)	ENSP00000514752.1:p.Val936AsnfsTer5
ENST00000700005.1:n.3007_3010dup (MSH6)
ENST00000700007.1:n.2624_2627dup (MSH6)
ENST00000700008.1:n.2291_2294dup (MSH6)
ENST00000700009.1:n.2693_2696dup (MSH6)
ENST00000700010.1:n.1438_1441dup (MSH6)
ENST00000700011.1:n.3323_3326dup (MSH6)
ENST00000682451.1:n.3939_3942dup (FBXO11)
ENST00000684712.1:n.4201_4204dup (FBXO11)
ENST00000234420.11:c.4029_4032dup (MSH6) MANE Select	ENSP00000234420.5:p.Val1345AsnfsTer5
ENST00000540021.6:c.3639_3642dup (MSH6)	ENSP00000446475.1:p.Val1215AsnfsTer5
ENST00000652107.1:c.3732_3735dup (MSH6)	ENSP00000498629.1:p.Val1246AsnfsTer5
ENST00000673637.1:c.3732_3735dup (MSH6)	ENSP00000501310.1:p.Val1246AsnfsTer5
ENST00000234420.9:c.4029_4032dup (MSH6)	ENSP00000234420.4:p.Val1345AsnfsTer5
ENST00000405808.5:c.169+1386_169+1389dup (FBXO11)	ENSP00000385127.1:n.169+1386_169+1389dup
ENST00000434234.5:c.*124+1185_*124+1188dup (FBXO11)	ENSP00000402692.1:n.*124+1185_*124+1188dup
ENST00000445503.5:c.*3376_*3379dup (MSH6)	ENSP00000405294.1:n.*3376_*3379dup
ENST00000465204.5:n.3101_3104dup (FBXO11)
ENST00000538136.1:c.3123_3126dup (MSH6)	ENSP00000438580.1:p.Val1043AsnfsTer5
ENST00000540021.5:c.3639_3642dup (MSH6)	ENSP00000446475.1:p.Val1215AsnfsTer5
ENST00000614496.4:c.3123_3126dup (MSH6)	ENSP00000477844.1:p.Val1043AsnfsTer5
ENST00000622629.4:c.930_933dup (MSH6)	ENSP00000482078.1:p.Val312AsnfsTer5
NM_000179.2:c.4029_4032dup , LRG_219t1:c.4029_4032dup (MSH6)	NP_000170.1:p.Val1345AsnfsTer5
NM_001281492.1:c.3639_3642dup (MSH6)	NP_001268421.1:p.Val1215AsnfsTer5
NM_001281493.1:c.3123_3126dup (MSH6)	NP_001268422.1:p.Val1043AsnfsTer5
NM_001281494.1:c.3123_3126dup (MSH6)	NP_001268423.1:p.Val1043AsnfsTer5
XM_005264271.1:c.3732_3735dup (MSH6)	XP_005264328.1:p.Val1246AsnfsTer5
XM_011532798.1:c.3846_3849dup (MSH6)	XP_011531100.1:p.Val1284AsnfsTer5
XM_011532799.1:c.3732_3735dup (MSH6)	XP_011531101.1:p.Val1246AsnfsTer5
XM_011532800.1:c.3732_3735dup (MSH6)	XP_011531102.1:p.Val1246AsnfsTer5
XM_024452819.1:c.4122_4125dup (MSH6)	XP_024308587.1:p.Val1376AsnfsTer5
XM_024452820.1:c.3939_3942dup (MSH6)	XP_024308588.1:p.Val1315AsnfsTer5
XM_024452821.1:c.3825_3828dup (MSH6)	XP_024308589.1:p.Val1277AsnfsTer5
XM_024452822.1:c.3216_3219dup (MSH6)	XP_024308590.1:p.Val1074AsnfsTer5
NM_000179.3:c.4029_4032dup (MSH6) MANE Select	NP_000170.1:p.Val1345AsnfsTer5
NM_001281492.2:c.3639_3642dup (MSH6)	NP_001268421.1:p.Val1215AsnfsTer5
NM_001281493.2:c.3123_3126dup (MSH6)	NP_001268422.1:p.Val1043AsnfsTer5
NM_001281494.2:c.3123_3126dup (MSH6)	NP_001268423.1:p.Val1043AsnfsTer5