Canonical Allele Identifier: CA915943964

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 817672
• ClinVar RCV Id: RCV001008877 ; RCV003316817
• dbSNP Id: rs1572742114

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805694_47805707dup , CM000664.2:g.47805694_47805707dup	GRCh38
NC_000002.11:g.48032833_48032846dup , CM000664.1:g.48032833_48032846dup	GRCh37
NC_000002.10:g.47886337_47886350dup	NCBI36
NG_007111.1:g.27548_27561dup , LRG_219:g.27548_27561dup
NG_008397.1:g.104969_104982dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3336_3349dup (MSH6)	ENSP00000406248.2:p.Gly1117ValfsTer5
ENST00000420813.6:c.3336_3349dup (MSH6)	ENSP00000390382.2:p.Gly1117ValfsTer5
ENST00000455383.6:c.3336_3349dup (MSH6)	ENSP00000397484.2:p.Gly1117ValfsTer5
ENST00000700004.2:c.3249_3262dup (MSH6)	ENSP00000514752.2:p.Gly1088ValfsTer5
ENST00000699999.1:n.4307_4320dup (MSH6)
ENST00000700000.1:c.2067_2080dup (MSH6)	ENSP00000514749.1:p.Gly694ValfsTer5
ENST00000700002.1:c.3639_3652dup (MSH6)	ENSP00000514750.1:p.Gly1218ValfsTer5
ENST00000700003.1:c.1088_1101dup (MSH6)	ENSP00000514751.1:n.1088_1101dup
ENST00000700004.1:c.2406_2419dup (MSH6)	ENSP00000514752.1:p.Gly807ValfsTer5
ENST00000700005.1:n.2484_2497dup (MSH6)
ENST00000700006.1:n.4295_4308dup (MSH6)
ENST00000700007.1:n.2228_2241dup (MSH6)
ENST00000700008.1:n.1802_1815dup (MSH6)
ENST00000700009.1:n.1801_1814dup (MSH6)
ENST00000700010.1:n.1042_1055dup (MSH6)
ENST00000700011.1:n.2927_2940dup (MSH6)
ENST00000234420.11:c.3633_3646dup (MSH6) MANE Select	ENSP00000234420.5:p.Gly1216ValfsTer5
ENST00000540021.6:c.3243_3256dup (MSH6)	ENSP00000446475.1:p.Gly1086ValfsTer5
ENST00000652107.1:c.3336_3349dup (MSH6)	ENSP00000498629.1:p.Gly1117ValfsTer5
ENST00000673637.1:c.3336_3349dup (MSH6)	ENSP00000501310.1:p.Gly1117ValfsTer5
ENST00000234420.9:c.3633_3646dup (MSH6)	ENSP00000234420.4:p.Gly1216ValfsTer5
ENST00000405808.5:c.169+2488_169+2501dup (FBXO11)	ENSP00000385127.1:n.169+2488_169+2501dup
ENST00000434234.5:c.*124+2287_*124+2300dup (FBXO11)	ENSP00000402692.1:n.*124+2287_*124+2300dup
ENST00000445503.5:c.*2980_*2993dup (MSH6)	ENSP00000405294.1:n.*2980_*2993dup
ENST00000538136.1:c.2727_2740dup (MSH6)	ENSP00000438580.1:p.Gly914ValfsTer5
ENST00000540021.5:c.3243_3256dup (MSH6)	ENSP00000446475.1:p.Gly1086ValfsTer5
ENST00000614496.4:c.2727_2740dup (MSH6)	ENSP00000477844.1:p.Gly914ValfsTer5
ENST00000622629.4:c.537_550dup (MSH6)	ENSP00000482078.1:p.Gly184ValfsTer5
NM_000179.2:c.3633_3646dup , LRG_219t1:c.3633_3646dup (MSH6)	NP_000170.1:p.Gly1216ValfsTer5
NM_001281492.1:c.3243_3256dup (MSH6)	NP_001268421.1:p.Gly1086ValfsTer5
NM_001281493.1:c.2727_2740dup (MSH6)	NP_001268422.1:p.Gly914ValfsTer5
NM_001281494.1:c.2727_2740dup (MSH6)	NP_001268423.1:p.Gly914ValfsTer5
XM_005264271.1:c.3336_3349dup (MSH6)	XP_005264328.1:p.Gly1117ValfsTer5
XM_011532798.1:c.3450_3463dup (MSH6)	XP_011531100.1:p.Gly1155ValfsTer5
XM_011532799.1:c.3336_3349dup (MSH6)	XP_011531101.1:p.Gly1117ValfsTer5
XM_011532800.1:c.3336_3349dup (MSH6)	XP_011531102.1:p.Gly1117ValfsTer5
XM_024452819.1:c.3633_3646dup (MSH6)	XP_024308587.1:p.Gly1216ValfsTer5
XM_024452820.1:c.3450_3463dup (MSH6)	XP_024308588.1:p.Gly1155ValfsTer5
XM_024452821.1:c.3336_3349dup (MSH6)	XP_024308589.1:p.Gly1117ValfsTer5
XM_024452822.1:c.2727_2740dup (MSH6)	XP_024308590.1:p.Gly914ValfsTer5
NM_000179.3:c.3633_3646dup (MSH6) MANE Select	NP_000170.1:p.Gly1216ValfsTer5
NM_001281492.2:c.3243_3256dup (MSH6)	NP_001268421.1:p.Gly1086ValfsTer5
NM_001281493.2:c.2727_2740dup (MSH6)	NP_001268422.1:p.Gly914ValfsTer5
NM_001281494.2:c.2727_2740dup (MSH6)	NP_001268423.1:p.Gly914ValfsTer5