Canonical Allele Identifier: CA645372556

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 433927
• ClinVar RCV Id: RCV000499672 ; RCV003150246
• dbSNP Id: rs1553333584
• MyVariant Identifiers: chr2:g.48033706_48033727dup (hg19) ; chr2:g.47806567_47806588dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806567_47806588dup , CM000664.2:g.47806567_47806588dup	GRCh38
NC_000002.11:g.48033706_48033727dup , CM000664.1:g.48033706_48033727dup	GRCh37
NC_000002.10:g.47887210_47887231dup	NCBI36
NG_007111.1:g.28421_28442dup , LRG_219:g.28421_28442dup
NG_008397.1:g.104088_104109dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3620_3641dup (MSH6)	ENSP00000406248.2:p.Gln1215Ter
ENST00000420813.6:c.3620_3641dup (MSH6)	ENSP00000390382.2:p.Gln1215Ter
ENST00000455383.6:c.3620_3641dup (MSH6)	ENSP00000397484.2:p.Gln1215Ter
ENST00000700004.2:c.3533_3554dup (MSH6)	ENSP00000514752.2:p.Gln1186Ter
ENST00000699999.1:n.4591_4612dup (MSH6)
ENST00000700000.1:c.2351_2372dup (MSH6)	ENSP00000514749.1:p.Gln792Ter
ENST00000700002.1:c.3923_3944dup (MSH6)	ENSP00000514750.1:p.Gln1316Ter
ENST00000700003.1:c.1372_1393dup (MSH6)	ENSP00000514751.1:n.1372_1393dup
ENST00000700004.1:c.2690_2711dup (MSH6)	ENSP00000514752.1:p.Gln905Ter
ENST00000700005.1:n.2768_2789dup (MSH6)
ENST00000700006.1:n.5075_5096dup (MSH6)
ENST00000700007.1:n.2512_2533dup (MSH6)
ENST00000700008.1:n.2179_2200dup (MSH6)
ENST00000700009.1:n.2581_2602dup (MSH6)
ENST00000700010.1:n.1326_1347dup (MSH6)
ENST00000700011.1:n.3211_3232dup (MSH6)
ENST00000682451.1:n.4160_4181dup (FBXO11)
ENST00000684712.1:n.4422_4443dup (FBXO11)
ENST00000234420.11:c.3917_3938dup (MSH6) MANE Select	ENSP00000234420.5:p.Gln1314Ter
ENST00000540021.6:c.3527_3548dup (MSH6)	ENSP00000446475.1:p.Gln1184Ter
ENST00000652107.1:c.3620_3641dup (MSH6)	ENSP00000498629.1:p.Gln1215Ter
ENST00000673637.1:c.3620_3641dup (MSH6)	ENSP00000501310.1:p.Gln1215Ter
ENST00000234420.9:c.3917_3938dup (MSH6)	ENSP00000234420.4:p.Gln1314Ter
ENST00000405808.5:c.169+1607_169+1628dup (FBXO11)	ENSP00000385127.1:n.169+1607_169+1628dup
ENST00000434234.5:c.*124+1406_*124+1427dup (FBXO11)	ENSP00000402692.1:n.*124+1406_*124+1427dup
ENST00000445503.5:c.*3264_*3285dup (MSH6)	ENSP00000405294.1:n.*3264_*3285dup
ENST00000538136.1:c.3011_3032dup (MSH6)	ENSP00000438580.1:p.Gln1012Ter
ENST00000540021.5:c.3527_3548dup (MSH6)	ENSP00000446475.1:p.Gln1184Ter
ENST00000614496.4:c.3011_3032dup (MSH6)	ENSP00000477844.1:p.Gln1012Ter
ENST00000622629.4:c.818_839dup (MSH6)	ENSP00000482078.1:p.Gln281Ter
NM_000179.2:c.3917_3938dup , LRG_219t1:c.3917_3938dup (MSH6)	NP_000170.1:p.Gln1314Ter
NM_001281492.1:c.3527_3548dup (MSH6)	NP_001268421.1:p.Gln1184Ter
NM_001281493.1:c.3011_3032dup (MSH6)	NP_001268422.1:p.Gln1012Ter
NM_001281494.1:c.3011_3032dup (MSH6)	NP_001268423.1:p.Gln1012Ter
XM_005264271.1:c.3620_3641dup (MSH6)	XP_005264328.1:p.Gln1215Ter
XM_011532798.1:c.3734_3755dup (MSH6)	XP_011531100.1:p.Gln1253Ter
XM_011532799.1:c.3620_3641dup (MSH6)	XP_011531101.1:p.Gln1215Ter
XM_011532800.1:c.3620_3641dup (MSH6)	XP_011531102.1:p.Gln1215Ter
XM_024452819.1:c.4010_4031dup (MSH6)	XP_024308587.1:p.Gln1345Ter
XM_024452820.1:c.3827_3848dup (MSH6)	XP_024308588.1:p.Gln1284Ter
XM_024452821.1:c.3713_3734dup (MSH6)	XP_024308589.1:p.Gln1246Ter
XM_024452822.1:c.3104_3125dup (MSH6)	XP_024308590.1:p.Gln1043Ter
NM_000179.3:c.3917_3938dup (MSH6) MANE Select	NP_000170.1:p.Gln1314Ter
NM_001281492.2:c.3527_3548dup (MSH6)	NP_001268421.1:p.Gln1184Ter
NM_001281493.2:c.3011_3032dup (MSH6)	NP_001268422.1:p.Gln1012Ter
NM_001281494.2:c.3011_3032dup (MSH6)	NP_001268423.1:p.Gln1012Ter