Canonical Allele Identifier: CA2573134810

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1479666
• ClinVar RCV Id: RCV001976889 ; RCV002352692
• dbSNP Id: rs2104581679

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806805_47806818dup , CM000664.2:g.47806805_47806818dup	GRCh38
NC_000002.11:g.48033944_48033957dup , CM000664.1:g.48033944_48033957dup	GRCh37
NC_000002.10:g.47887448_47887461dup	NCBI36
NG_007111.1:g.28659_28672dup , LRG_219:g.28659_28672dup
NG_008397.1:g.103859_103872dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3731_3744dup (MSH6)	ENSP00000406248.2:p.Glu1249GlnfsTer3
ENST00000420813.6:c.3731_3744dup (MSH6)	ENSP00000390382.2:p.Glu1249GlnfsTer3
ENST00000455383.6:c.3731_3744dup (MSH6)	ENSP00000397484.2:p.Glu1249GlnfsTer3
ENST00000700004.2:c.3644_3657dup (MSH6)	ENSP00000514752.2:p.Glu1220GlnfsTer3
ENST00000699999.1:n.4702_4715dup (MSH6)
ENST00000700000.1:c.2462_2475dup (MSH6)	ENSP00000514749.1:p.Glu826GlnfsTer3
ENST00000700002.1:c.4034_4047dup (MSH6)	ENSP00000514750.1:p.Glu1350GlnfsTer3
ENST00000700003.1:c.1483_1496dup (MSH6)	ENSP00000514751.1:n.1483_1496dup
ENST00000700004.1:c.2801_2814dup (MSH6)	ENSP00000514752.1:p.Glu939GlnfsTer3
ENST00000700005.1:n.3006_3019dup (MSH6)
ENST00000700007.1:n.2623_2636dup (MSH6)
ENST00000700008.1:n.2290_2303dup (MSH6)
ENST00000700009.1:n.2692_2705dup (MSH6)
ENST00000700010.1:n.1437_1450dup (MSH6)
ENST00000700011.1:n.3322_3335dup (MSH6)
ENST00000682451.1:n.3931_3944dup (FBXO11)
ENST00000684712.1:n.4193_4206dup (FBXO11)
ENST00000234420.11:c.4028_4041dup (MSH6) MANE Select	ENSP00000234420.5:p.Glu1348GlnfsTer3
ENST00000540021.6:c.3638_3651dup (MSH6)	ENSP00000446475.1:p.Glu1218GlnfsTer3
ENST00000652107.1:c.3731_3744dup (MSH6)	ENSP00000498629.1:p.Glu1249GlnfsTer3
ENST00000673637.1:c.3731_3744dup (MSH6)	ENSP00000501310.1:p.Glu1249GlnfsTer3
ENST00000234420.9:c.4028_4041dup (MSH6)	ENSP00000234420.4:p.Glu1348GlnfsTer3
ENST00000405808.5:c.169+1378_169+1391dup (FBXO11)	ENSP00000385127.1:n.169+1378_169+1391dup
ENST00000434234.5:c.*124+1177_*124+1190dup (FBXO11)	ENSP00000402692.1:n.*124+1177_*124+1190dup
ENST00000445503.5:c.*3375_*3388dup (MSH6)	ENSP00000405294.1:n.*3375_*3388dup
ENST00000465204.5:n.3093_3106dup (FBXO11)
ENST00000538136.1:c.3122_3135dup (MSH6)	ENSP00000438580.1:p.Glu1046GlnfsTer3
ENST00000540021.5:c.3638_3651dup (MSH6)	ENSP00000446475.1:p.Glu1218GlnfsTer3
ENST00000614496.4:c.3122_3135dup (MSH6)	ENSP00000477844.1:p.Glu1046GlnfsTer3
ENST00000622629.4:c.929_942dup (MSH6)	ENSP00000482078.1:p.Glu315GlnfsTer3
NM_000179.2:c.4028_4041dup , LRG_219t1:c.4028_4041dup (MSH6)	NP_000170.1:p.Glu1348GlnfsTer3
NM_001281492.1:c.3638_3651dup (MSH6)	NP_001268421.1:p.Glu1218GlnfsTer3
NM_001281493.1:c.3122_3135dup (MSH6)	NP_001268422.1:p.Glu1046GlnfsTer3
NM_001281494.1:c.3122_3135dup (MSH6)	NP_001268423.1:p.Glu1046GlnfsTer3
XM_005264271.1:c.3731_3744dup (MSH6)	XP_005264328.1:p.Glu1249GlnfsTer3
XM_011532798.1:c.3845_3858dup (MSH6)	XP_011531100.1:p.Glu1287GlnfsTer3
XM_011532799.1:c.3731_3744dup (MSH6)	XP_011531101.1:p.Glu1249GlnfsTer3
XM_011532800.1:c.3731_3744dup (MSH6)	XP_011531102.1:p.Glu1249GlnfsTer3
XM_024452819.1:c.4121_4134dup (MSH6)	XP_024308587.1:p.Glu1379GlnfsTer3
XM_024452820.1:c.3938_3951dup (MSH6)	XP_024308588.1:p.Glu1318GlnfsTer3
XM_024452821.1:c.3824_3837dup (MSH6)	XP_024308589.1:p.Glu1280GlnfsTer3
XM_024452822.1:c.3215_3228dup (MSH6)	XP_024308590.1:p.Glu1077GlnfsTer3
NM_000179.3:c.4028_4041dup (MSH6) MANE Select	NP_000170.1:p.Glu1348GlnfsTer3
NM_001281492.2:c.3638_3651dup (MSH6)	NP_001268421.1:p.Glu1218GlnfsTer3
NM_001281493.2:c.3122_3135dup (MSH6)	NP_001268422.1:p.Glu1046GlnfsTer3
NM_001281494.2:c.3122_3135dup (MSH6)	NP_001268423.1:p.Glu1046GlnfsTer3