Canonical Allele Identifier: CA2580067146

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2099704
• ClinVar RCV Id: RCV003021842

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804929_47804930insTA , CM000664.2:g.47804929_47804930insTA	GRCh38
NC_000002.11:g.48032068_48032069insTA , CM000664.1:g.48032068_48032069insTA	GRCh37
NC_000002.10:g.47885572_47885573insTA	NCBI36
NG_007111.1:g.26783_26784insTA , LRG_219:g.26783_26784insTA
NG_008397.1:g.105746_105747insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3161_3162insTA (MSH6)	ENSP00000406248.2:p.Met1054IlefsTer?
ENST00000420813.6:c.3161_3162insTA (MSH6)	ENSP00000390382.2:p.Met1054IlefsTer?
ENST00000455383.6:c.3161_3162insTA (MSH6)	ENSP00000397484.2:p.Met1054IlefsTer?
ENST00000700004.2:c.3173-689_3173-688insTA (MSH6)	ENSP00000514752.2:n.3173-689_3173-688insTA
ENST00000699999.1:n.3542_3543insTA (MSH6)
ENST00000700000.1:c.1892_1893insTA (MSH6)	ENSP00000514749.1:p.Met631IlefsTer?
ENST00000700002.1:c.3464_3465insTA (MSH6)	ENSP00000514750.1:p.Met1155IlefsTer?
ENST00000700003.1:c.913_914insTA (MSH6)	ENSP00000514751.1:n.913_914insTA
ENST00000700004.1:c.2330-689_2330-688insTA (MSH6)	ENSP00000514752.1:n.2330-689_2330-688insTA
ENST00000700005.1:n.2309_2310insTA (MSH6)
ENST00000700006.1:n.3530_3531insTA (MSH6)
ENST00000700007.1:n.1463_1464insTA (MSH6)
ENST00000700008.1:n.1037_1038insTA (MSH6)
ENST00000700009.1:n.1036_1037insTA (MSH6)
ENST00000700010.1:n.867_868insTA (MSH6)
ENST00000700011.1:n.2162_2163insTA (MSH6)
ENST00000234420.11:c.3458_3459insTA (MSH6) MANE Select	ENSP00000234420.5:p.Met1153IlefsTer?
ENST00000540021.6:c.3068_3069insTA (MSH6)	ENSP00000446475.1:p.Met1023IlefsTer?
ENST00000652107.1:c.3161_3162insTA (MSH6)	ENSP00000498629.1:p.Met1054IlefsTer?
ENST00000673637.1:c.3161_3162insTA (MSH6)	ENSP00000501310.1:p.Met1054IlefsTer?
ENST00000234420.9:c.3458_3459insTA (MSH6)	ENSP00000234420.4:p.Met1153IlefsTer?
ENST00000405808.5:c.169+3265_169+3266insTA (FBXO11)	ENSP00000385127.1:n.169+3265_169+3266insTA
ENST00000434234.5:c.*124+3064_*124+3065insTA (FBXO11)	ENSP00000402692.1:n.*124+3064_*124+3065insTA
ENST00000445503.5:c.*2805_*2806insTA (MSH6)	ENSP00000405294.1:n.*2805_*2806insTA
ENST00000538136.1:c.2552_2553insTA (MSH6)	ENSP00000438580.1:p.Met851IlefsTer?
ENST00000540021.5:c.3068_3069insTA (MSH6)	ENSP00000446475.1:p.Met1023IlefsTer?
ENST00000614496.4:c.2552_2553insTA (MSH6)	ENSP00000477844.1:p.Met851IlefsTer?
ENST00000622629.4:c.362_363insTA (MSH6)	ENSP00000482078.1:p.Met121IlefsTer?
NM_000179.2:c.3458_3459insTA , LRG_219t1:c.3458_3459insTA (MSH6)	NP_000170.1:p.Met1153IlefsTer?
NM_001281492.1:c.3068_3069insTA (MSH6)	NP_001268421.1:p.Met1023IlefsTer?
NM_001281493.1:c.2552_2553insTA (MSH6)	NP_001268422.1:p.Met851IlefsTer?
NM_001281494.1:c.2552_2553insTA (MSH6)	NP_001268423.1:p.Met851IlefsTer?
XM_005264271.1:c.3161_3162insTA (MSH6)	XP_005264328.1:p.Met1054IlefsTer?
XM_011532798.1:c.3275_3276insTA (MSH6)	XP_011531100.1:p.Met1092IlefsTer?
XM_011532799.1:c.3161_3162insTA (MSH6)	XP_011531101.1:p.Met1054IlefsTer?
XM_011532800.1:c.3161_3162insTA (MSH6)	XP_011531102.1:p.Met1054IlefsTer?
XM_024452819.1:c.3458_3459insTA (MSH6)	XP_024308587.1:p.Met1153IlefsTer?
XM_024452820.1:c.3275_3276insTA (MSH6)	XP_024308588.1:p.Met1092IlefsTer?
XM_024452821.1:c.3161_3162insTA (MSH6)	XP_024308589.1:p.Met1054IlefsTer?
XM_024452822.1:c.2552_2553insTA (MSH6)	XP_024308590.1:p.Met851IlefsTer?
NM_000179.3:c.3458_3459insTA (MSH6) MANE Select	NP_000170.1:p.Met1153IlefsTer?
NM_001281492.2:c.3068_3069insTA (MSH6)	NP_001268421.1:p.Met1023IlefsTer?
NM_001281493.2:c.2552_2553insTA (MSH6)	NP_001268422.1:p.Met851IlefsTer?
NM_001281494.2:c.2552_2553insTA (MSH6)	NP_001268423.1:p.Met851IlefsTer?