Canonical Allele Identifier: CA2580067595

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1773483
• ClinVar RCV Id: RCV002397057

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799461_47799463del , CM000664.2:g.47799461_47799463del	GRCh38
NC_000002.11:g.48026600_48026602del , CM000664.1:g.48026600_48026602del	GRCh37
NC_000002.10:g.47880104_47880106del	NCBI36
NG_007111.1:g.21315_21317del , LRG_219:g.21315_21317del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1181_1183del (MSH6)	ENSP00000406248.2:p.Glu394del
ENST00000420813.6:c.1181_1183del (MSH6)	ENSP00000390382.2:p.Glu394del
ENST00000455383.6:c.1181_1183del (MSH6)	ENSP00000397484.2:p.Glu394del
ENST00000700004.2:c.1478_1480del (MSH6)	ENSP00000514752.2:p.Glu493del
ENST00000699999.1:n.1562_1564del (MSH6)
ENST00000700000.1:c.1478_1480del (MSH6)	ENSP00000514749.1:p.Glu493del
ENST00000700002.1:c.1484_1486del (MSH6)	ENSP00000514750.1:p.Glu495del
ENST00000700003.1:c.627+3398_627+3400del (MSH6)	ENSP00000514751.1:n.627+3398_627+3400del
ENST00000700004.1:c.635_637del (MSH6)	ENSP00000514752.1:p.Glu212del
ENST00000234420.11:c.1478_1480del (MSH6) MANE Select	ENSP00000234420.5:p.Glu493del
ENST00000540021.6:c.1088_1090del (MSH6)	ENSP00000446475.1:p.Glu363del
ENST00000652107.1:c.1181_1183del (MSH6)	ENSP00000498629.1:p.Glu394del
ENST00000673637.1:c.1181_1183del (MSH6)	ENSP00000501310.1:p.Glu394del
ENST00000234420.9:c.1478_1480del (MSH6)	ENSP00000234420.4:p.Glu493del
ENST00000405808.5:c.169+8734_169+8736del (FBXO11)	ENSP00000385127.1:n.169+8734_169+8736del
ENST00000434234.5:c.*124+8533_*124+8535del (FBXO11)	ENSP00000402692.1:n.*124+8533_*124+8535de...
ENST00000445503.5:c.*825_*827del (MSH6)	ENSP00000405294.1:n.*825_*827del
ENST00000538136.1:c.572_574del (MSH6)	ENSP00000438580.1:p.Glu191del
ENST00000540021.5:c.1088_1090del (MSH6)	ENSP00000446475.1:p.Glu363del
ENST00000614496.4:c.572_574del (MSH6)	ENSP00000477844.1:p.Glu191del
ENST00000616033.4:c.1475_1477del (MSH6)	ENSP00000480261.1:p.Glu492del
ENST00000622629.4:c.-1619_-1617del (MSH6)	ENSP00000482078.1:n.-1619_-1617del
NM_000179.2:c.1478_1480del , LRG_219t1:c.1478_1480del (MSH6)	NP_000170.1:p.Glu493del
NM_001281492.1:c.1088_1090del (MSH6)	NP_001268421.1:p.Glu363del
NM_001281493.1:c.572_574del (MSH6)	NP_001268422.1:p.Glu191del
NM_001281494.1:c.572_574del (MSH6)	NP_001268423.1:p.Glu191del
XM_005264271.1:c.1181_1183del (MSH6)	XP_005264328.1:p.Glu394del
XM_011532798.1:c.1295_1297del (MSH6)	XP_011531100.1:p.Glu432del
XM_011532799.1:c.1181_1183del (MSH6)	XP_011531101.1:p.Glu394del
XM_011532800.1:c.1181_1183del (MSH6)	XP_011531102.1:p.Glu394del
XM_024452819.1:c.1478_1480del (MSH6)	XP_024308587.1:p.Glu493del
XM_024452820.1:c.1295_1297del (MSH6)	XP_024308588.1:p.Glu432del
XM_024452821.1:c.1181_1183del (MSH6)	XP_024308589.1:p.Glu394del
XM_024452822.1:c.572_574del (MSH6)	XP_024308590.1:p.Glu191del
NM_000179.3:c.1478_1480del (MSH6) MANE Select	NP_000170.1:p.Glu493del
NM_001281492.2:c.1088_1090del (MSH6)	NP_001268421.1:p.Glu363del
NM_001281493.2:c.572_574del (MSH6)	NP_001268422.1:p.Glu191del
NM_001281494.2:c.572_574del (MSH6)	NP_001268423.1:p.Glu191del