Canonical Allele Identifier: CA2573134917

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1460121
• ClinVar RCV Id: RCV001951437 ; RCV003453888
• dbSNP Id: rs2104335533

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799298_47799301del , CM000664.2:g.47799298_47799301del	GRCh38
NC_000002.11:g.48026437_48026440del , CM000664.1:g.48026437_48026440del	GRCh37
NC_000002.10:g.47879941_47879944del	NCBI36
NG_007111.1:g.21152_21155del , LRG_219:g.21152_21155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1018_1021del (MSH6)	ENSP00000406248.2:p.Asp340LeufsTer13
ENST00000420813.6:c.1018_1021del (MSH6)	ENSP00000390382.2:p.Asp340LeufsTer13
ENST00000455383.6:c.1018_1021del (MSH6)	ENSP00000397484.2:p.Asp340LeufsTer13
ENST00000700004.2:c.1315_1318del (MSH6)	ENSP00000514752.2:p.Asp439LeufsTer13
ENST00000699999.1:n.1399_1402del (MSH6)
ENST00000700000.1:c.1315_1318del (MSH6)	ENSP00000514749.1:p.Asp439LeufsTer13
ENST00000700002.1:c.1321_1324del (MSH6)	ENSP00000514750.1:p.Asp441LeufsTer13
ENST00000700003.1:c.627+3235_627+3238del (MSH6)	ENSP00000514751.1:n.627+3235_627+3238del
ENST00000700004.1:c.472_475del (MSH6)	ENSP00000514752.1:p.Asp158LeufsTer13
ENST00000234420.11:c.1315_1318del (MSH6) MANE Select	ENSP00000234420.5:p.Asp439LeufsTer13
ENST00000540021.6:c.925_928del (MSH6)	ENSP00000446475.1:p.Asp309LeufsTer13
ENST00000652107.1:c.1018_1021del (MSH6)	ENSP00000498629.1:p.Asp340LeufsTer13
ENST00000673637.1:c.1018_1021del (MSH6)	ENSP00000501310.1:p.Asp340LeufsTer13
ENST00000234420.9:c.1315_1318del (MSH6)	ENSP00000234420.4:p.Asp439LeufsTer13
ENST00000405808.5:c.169+8897_169+8900del (FBXO11)	ENSP00000385127.1:n.169+8897_169+8900del
ENST00000434234.5:c.*124+8696_*124+8699del (FBXO11)	ENSP00000402692.1:n.*124+8696_*124+8699del
ENST00000445503.5:c.*662_*665del (MSH6)	ENSP00000405294.1:n.*662_*665del
ENST00000538136.1:c.409_412del (MSH6)	ENSP00000438580.1:p.Asp137LeufsTer13
ENST00000540021.5:c.925_928del (MSH6)	ENSP00000446475.1:p.Asp309LeufsTer13
ENST00000614496.4:c.409_412del (MSH6)	ENSP00000477844.1:p.Asp137LeufsTer13
ENST00000616033.4:c.1312_1315del (MSH6)	ENSP00000480261.1:p.Asp438LeufsTer13
ENST00000622629.4:c.-1782_-1779del (MSH6)	ENSP00000482078.1:n.-1782_-1779del
NM_000179.2:c.1315_1318del , LRG_219t1:c.1315_1318del (MSH6)	NP_000170.1:p.Asp439LeufsTer13
NM_001281492.1:c.925_928del (MSH6)	NP_001268421.1:p.Asp309LeufsTer13
NM_001281493.1:c.409_412del (MSH6)	NP_001268422.1:p.Asp137LeufsTer13
NM_001281494.1:c.409_412del (MSH6)	NP_001268423.1:p.Asp137LeufsTer13
XM_005264271.1:c.1018_1021del (MSH6)	XP_005264328.1:p.Asp340LeufsTer13
XM_011532798.1:c.1132_1135del (MSH6)	XP_011531100.1:p.Asp378LeufsTer13
XM_011532799.1:c.1018_1021del (MSH6)	XP_011531101.1:p.Asp340LeufsTer13
XM_011532800.1:c.1018_1021del (MSH6)	XP_011531102.1:p.Asp340LeufsTer13
XM_024452819.1:c.1315_1318del (MSH6)	XP_024308587.1:p.Asp439LeufsTer13
XM_024452820.1:c.1132_1135del (MSH6)	XP_024308588.1:p.Asp378LeufsTer13
XM_024452821.1:c.1018_1021del (MSH6)	XP_024308589.1:p.Asp340LeufsTer13
XM_024452822.1:c.409_412del (MSH6)	XP_024308590.1:p.Asp137LeufsTer13
NM_000179.3:c.1315_1318del (MSH6) MANE Select	NP_000170.1:p.Asp439LeufsTer13
NM_001281492.2:c.925_928del (MSH6)	NP_001268421.1:p.Asp309LeufsTer13
NM_001281493.2:c.409_412del (MSH6)	NP_001268422.1:p.Asp137LeufsTer13
NM_001281494.2:c.409_412del (MSH6)	NP_001268423.1:p.Asp137LeufsTer13