Canonical Allele Identifier: CA2499216144

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1179973
• ClinVar RCV Id: RCV001537072
• dbSNP Id: rs2104563446

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806593_47806594dup , CM000664.2:g.47806593_47806594dup	GRCh38
NC_000002.11:g.48033732_48033733dup , CM000664.1:g.48033732_48033733dup	GRCh37
NC_000002.10:g.47887236_47887237dup	NCBI36
NG_007111.1:g.28447_28448dup , LRG_219:g.28447_28448dup
NG_008397.1:g.104084_104085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3646_3647dup (MSH6)	ENSP00000406248.2:p.Gly1217ArgfsTer12
ENST00000420813.6:c.3646_3647dup (MSH6)	ENSP00000390382.2:p.Gly1217ArgfsTer12
ENST00000455383.6:c.3646_3647dup (MSH6)	ENSP00000397484.2:p.Gly1217ArgfsTer12
ENST00000700004.2:c.3559_3560dup (MSH6)	ENSP00000514752.2:p.Gly1188ArgfsTer12
ENST00000699999.1:n.4617_4618dup (MSH6)
ENST00000700000.1:c.2377_2378dup (MSH6)	ENSP00000514749.1:p.Gly794ArgfsTer12
ENST00000700002.1:c.3949_3950dup (MSH6)	ENSP00000514750.1:p.Gly1318ArgfsTer12
ENST00000700003.1:c.1398_1399dup (MSH6)	ENSP00000514751.1:n.1398_1399dup
ENST00000700004.1:c.2716_2717dup (MSH6)	ENSP00000514752.1:p.Gly907ArgfsTer12
ENST00000700005.1:n.2794_2795dup (MSH6)
ENST00000700006.1:n.5101_5102dup (MSH6)
ENST00000700007.1:n.2538_2539dup (MSH6)
ENST00000700008.1:n.2205_2206dup (MSH6)
ENST00000700009.1:n.2607_2608dup (MSH6)
ENST00000700010.1:n.1352_1353dup (MSH6)
ENST00000700011.1:n.3237_3238dup (MSH6)
ENST00000682451.1:n.4156_4157dup (FBXO11)
ENST00000684712.1:n.4418_4419dup (FBXO11)
ENST00000234420.11:c.3943_3944dup (MSH6) MANE Select	ENSP00000234420.5:p.Gly1316ArgfsTer12
ENST00000540021.6:c.3553_3554dup (MSH6)	ENSP00000446475.1:p.Gly1186ArgfsTer12
ENST00000652107.1:c.3646_3647dup (MSH6)	ENSP00000498629.1:p.Gly1217ArgfsTer12
ENST00000673637.1:c.3646_3647dup (MSH6)	ENSP00000501310.1:p.Gly1217ArgfsTer12
ENST00000234420.9:c.3943_3944dup (MSH6)	ENSP00000234420.4:p.Gly1316ArgfsTer12
ENST00000405808.5:c.169+1603_169+1604dup (FBXO11)	ENSP00000385127.1:n.169+1603_169+1604dup
ENST00000434234.5:c.*124+1402_*124+1403dup (FBXO11)	ENSP00000402692.1:n.*124+1402_*124+1403dup
ENST00000445503.5:c.*3290_*3291dup (MSH6)	ENSP00000405294.1:n.*3290_*3291dup
ENST00000538136.1:c.3037_3038dup (MSH6)	ENSP00000438580.1:p.Gly1014ArgfsTer12
ENST00000540021.5:c.3553_3554dup (MSH6)	ENSP00000446475.1:p.Gly1186ArgfsTer12
ENST00000614496.4:c.3037_3038dup (MSH6)	ENSP00000477844.1:p.Gly1014ArgfsTer12
ENST00000622629.4:c.844_845dup (MSH6)	ENSP00000482078.1:p.Gly283ArgfsTer12
NM_000179.2:c.3943_3944dup , LRG_219t1:c.3943_3944dup (MSH6)	NP_000170.1:p.Gly1316ArgfsTer12
NM_001281492.1:c.3553_3554dup (MSH6)	NP_001268421.1:p.Gly1186ArgfsTer12
NM_001281493.1:c.3037_3038dup (MSH6)	NP_001268422.1:p.Gly1014ArgfsTer12
NM_001281494.1:c.3037_3038dup (MSH6)	NP_001268423.1:p.Gly1014ArgfsTer12
XM_005264271.1:c.3646_3647dup (MSH6)	XP_005264328.1:p.Gly1217ArgfsTer12
XM_011532798.1:c.3760_3761dup (MSH6)	XP_011531100.1:p.Gly1255ArgfsTer12
XM_011532799.1:c.3646_3647dup (MSH6)	XP_011531101.1:p.Gly1217ArgfsTer12
XM_011532800.1:c.3646_3647dup (MSH6)	XP_011531102.1:p.Gly1217ArgfsTer12
XM_024452819.1:c.4036_4037dup (MSH6)	XP_024308587.1:p.Gly1347ArgfsTer12
XM_024452820.1:c.3853_3854dup (MSH6)	XP_024308588.1:p.Gly1286ArgfsTer12
XM_024452821.1:c.3739_3740dup (MSH6)	XP_024308589.1:p.Gly1248ArgfsTer12
XM_024452822.1:c.3130_3131dup (MSH6)	XP_024308590.1:p.Gly1045ArgfsTer12
NM_000179.3:c.3943_3944dup (MSH6) MANE Select	NP_000170.1:p.Gly1316ArgfsTer12
NM_001281492.2:c.3553_3554dup (MSH6)	NP_001268421.1:p.Gly1186ArgfsTer12
NM_001281493.2:c.3037_3038dup (MSH6)	NP_001268422.1:p.Gly1014ArgfsTer12
NM_001281494.2:c.3037_3038dup (MSH6)	NP_001268423.1:p.Gly1014ArgfsTer12