Canonical Allele Identifier: CA2580611298

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1733361
• ClinVar RCV Id: RCV002452327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805686_47805687del , CM000664.2:g.47805686_47805687del	GRCh38
NC_000002.11:g.48032825_48032826del , CM000664.1:g.48032825_48032826del	GRCh37
NC_000002.10:g.47886329_47886330del	NCBI36
NG_007111.1:g.27540_27541del , LRG_219:g.27540_27541del
NG_008397.1:g.104992_104993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3328_3329del (MSH6)	ENSP00000406248.2:p.Leu1110GlyfsTer5
ENST00000420813.6:c.3328_3329del (MSH6)	ENSP00000390382.2:p.Leu1110GlyfsTer5
ENST00000455383.6:c.3328_3329del (MSH6)	ENSP00000397484.2:p.Leu1110GlyfsTer5
ENST00000700004.2:c.3241_3242del (MSH6)	ENSP00000514752.2:p.Leu1081GlyfsTer5
ENST00000699999.1:n.4299_4300del (MSH6)
ENST00000700000.1:c.2059_2060del (MSH6)	ENSP00000514749.1:p.Leu687GlyfsTer5
ENST00000700002.1:c.3631_3632del (MSH6)	ENSP00000514750.1:p.Leu1211GlyfsTer5
ENST00000700003.1:c.1080_1081del (MSH6)	ENSP00000514751.1:n.1080_1081del
ENST00000700004.1:c.2398_2399del (MSH6)	ENSP00000514752.1:p.Leu800GlyfsTer5
ENST00000700005.1:n.2476_2477del (MSH6)
ENST00000700006.1:n.4287_4288del (MSH6)
ENST00000700007.1:n.2220_2221del (MSH6)
ENST00000700008.1:n.1794_1795del (MSH6)
ENST00000700009.1:n.1793_1794del (MSH6)
ENST00000700010.1:n.1034_1035del (MSH6)
ENST00000700011.1:n.2919_2920del (MSH6)
ENST00000234420.11:c.3625_3626del (MSH6) MANE Select	ENSP00000234420.5:p.Leu1209GlyfsTer5
ENST00000540021.6:c.3235_3236del (MSH6)	ENSP00000446475.1:p.Leu1079GlyfsTer5
ENST00000652107.1:c.3328_3329del (MSH6)	ENSP00000498629.1:p.Leu1110GlyfsTer5
ENST00000673637.1:c.3328_3329del (MSH6)	ENSP00000501310.1:p.Leu1110GlyfsTer5
ENST00000234420.9:c.3625_3626del (MSH6)	ENSP00000234420.4:p.Leu1209GlyfsTer5
ENST00000405808.5:c.169+2511_169+2512del (FBXO11)	ENSP00000385127.1:n.169+2511_169+2512del
ENST00000434234.5:c.*124+2310_*124+2311del (FBXO11)	ENSP00000402692.1:n.*124+2310_*124+2311del
ENST00000445503.5:c.*2972_*2973del (MSH6)	ENSP00000405294.1:n.*2972_*2973del
ENST00000538136.1:c.2719_2720del (MSH6)	ENSP00000438580.1:p.Leu907GlyfsTer5
ENST00000540021.5:c.3235_3236del (MSH6)	ENSP00000446475.1:p.Leu1079GlyfsTer5
ENST00000614496.4:c.2719_2720del (MSH6)	ENSP00000477844.1:p.Leu907GlyfsTer5
ENST00000622629.4:c.529_530del (MSH6)	ENSP00000482078.1:p.Leu177GlyfsTer5
NM_000179.2:c.3625_3626del , LRG_219t1:c.3625_3626del (MSH6)	NP_000170.1:p.Leu1209GlyfsTer5
NM_001281492.1:c.3235_3236del (MSH6)	NP_001268421.1:p.Leu1079GlyfsTer5
NM_001281493.1:c.2719_2720del (MSH6)	NP_001268422.1:p.Leu907GlyfsTer5
NM_001281494.1:c.2719_2720del (MSH6)	NP_001268423.1:p.Leu907GlyfsTer5
XM_005264271.1:c.3328_3329del (MSH6)	XP_005264328.1:p.Leu1110GlyfsTer5
XM_011532798.1:c.3442_3443del (MSH6)	XP_011531100.1:p.Leu1148GlyfsTer5
XM_011532799.1:c.3328_3329del (MSH6)	XP_011531101.1:p.Leu1110GlyfsTer5
XM_011532800.1:c.3328_3329del (MSH6)	XP_011531102.1:p.Leu1110GlyfsTer5
XM_024452819.1:c.3625_3626del (MSH6)	XP_024308587.1:p.Leu1209GlyfsTer5
XM_024452820.1:c.3442_3443del (MSH6)	XP_024308588.1:p.Leu1148GlyfsTer5
XM_024452821.1:c.3328_3329del (MSH6)	XP_024308589.1:p.Leu1110GlyfsTer5
XM_024452822.1:c.2719_2720del (MSH6)	XP_024308590.1:p.Leu907GlyfsTer5
NM_000179.3:c.3625_3626del (MSH6) MANE Select	NP_000170.1:p.Leu1209GlyfsTer5
NM_001281492.2:c.3235_3236del (MSH6)	NP_001268421.1:p.Leu1079GlyfsTer5
NM_001281493.2:c.2719_2720del (MSH6)	NP_001268422.1:p.Leu907GlyfsTer5
NM_001281494.2:c.2719_2720del (MSH6)	NP_001268423.1:p.Leu907GlyfsTer5