Canonical Allele Identifier: CA915943951

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 823459
• ClinVar RCV Id: RCV001019718 ; RCV001224705
• dbSNP Id: rs1572735512

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803540_47803541delinsTT , CM000664.2:g.47803540_47803541delinsTT	GRCh38
NC_000002.11:g.48030679_48030680delinsTT , CM000664.1:g.48030679_48030680delinsTT	GRCh37
NC_000002.10:g.47884183_47884184delinsTT	NCBI36
NG_007111.1:g.25394_25395delinsTT , LRG_219:g.25394_25395delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2996_2997delinsTT (MSH6)	ENSP00000406248.2:p.Cys999Phe
ENST00000420813.6:c.2996_2997delinsTT (MSH6)	ENSP00000390382.2:p.Cys999Phe
ENST00000455383.6:c.2996_2997delinsTT (MSH6)	ENSP00000397484.2:p.Cys999Phe
ENST00000700004.2:c.3173-2078_3173-2077delinsTT (MSH6)	ENSP00000514752.2:n.3173-2078_3173-2077delinsTT
ENST00000699999.1:n.3377_3378delinsTT (MSH6)
ENST00000700000.1:c.1727_1728delinsTT (MSH6)	ENSP00000514749.1:p.Cys576Phe
ENST00000700002.1:c.3299_3300delinsTT (MSH6)	ENSP00000514750.1:p.Cys1100Phe
ENST00000700003.1:c.748_749delinsTT (MSH6)	ENSP00000514751.1:n.748_749delinsTT
ENST00000700004.1:c.2330-2078_2330-2077delinsTT (MSH6)	ENSP00000514752.1:n.2330-2078_2330-2077delinsTT
ENST00000700005.1:n.2144_2145delinsTT (MSH6)
ENST00000700006.1:n.2141_2142delinsTT (MSH6)
ENST00000700007.1:n.1298_1299delinsTT (MSH6)
ENST00000700008.1:n.872_873delinsTT (MSH6)
ENST00000700009.1:n.871_872delinsTT (MSH6)
ENST00000700010.1:n.702_703delinsTT (MSH6)
ENST00000700011.1:n.773_774delinsTT (MSH6)
ENST00000234420.11:c.3293_3294delinsTT (MSH6) MANE Select	ENSP00000234420.5:p.Cys1098Phe
ENST00000540021.6:c.2903_2904delinsTT (MSH6)	ENSP00000446475.1:p.Cys968Phe
ENST00000652107.1:c.2996_2997delinsTT (MSH6)	ENSP00000498629.1:p.Cys999Phe
ENST00000673637.1:c.2996_2997delinsTT (MSH6)	ENSP00000501310.1:p.Cys999Phe
ENST00000234420.9:c.3293_3294delinsTT (MSH6)	ENSP00000234420.4:p.Cys1098Phe
ENST00000405808.5:c.169+4654_169+4655delinsAA (FBXO11)	ENSP00000385127.1:n.169+4654_169+4655delinsAA
ENST00000434234.5:c.*124+4453_*124+4454delinsAA (FBXO11)	ENSP00000402692.1:n.*124+4453_*124+4454delinsAA
ENST00000445503.5:c.*2640_*2641delinsTT (MSH6)	ENSP00000405294.1:n.*2640_*2641delinsTT
ENST00000538136.1:c.2387_2388delinsTT (MSH6)	ENSP00000438580.1:p.Cys796Phe
ENST00000540021.5:c.2903_2904delinsTT (MSH6)	ENSP00000446475.1:p.Cys968Phe
ENST00000614496.4:c.2387_2388delinsTT (MSH6)	ENSP00000477844.1:p.Cys796Phe
ENST00000622629.4:c.197_198delinsTT (MSH6)	ENSP00000482078.1:p.Cys66Phe
NM_000179.2:c.3293_3294delinsTT , LRG_219t1:c.3293_3294delinsTT (MSH6)	NP_000170.1:p.Cys1098Phe
NM_001281492.1:c.2903_2904delinsTT (MSH6)	NP_001268421.1:p.Cys968Phe
NM_001281493.1:c.2387_2388delinsTT (MSH6)	NP_001268422.1:p.Cys796Phe
NM_001281494.1:c.2387_2388delinsTT (MSH6)	NP_001268423.1:p.Cys796Phe
XM_005264271.1:c.2996_2997delinsTT (MSH6)	XP_005264328.1:p.Cys999Phe
XM_011532798.1:c.3110_3111delinsTT (MSH6)	XP_011531100.1:p.Cys1037Phe
XM_011532799.1:c.2996_2997delinsTT (MSH6)	XP_011531101.1:p.Cys999Phe
XM_011532800.1:c.2996_2997delinsTT (MSH6)	XP_011531102.1:p.Cys999Phe
XM_024452819.1:c.3293_3294delinsTT (MSH6)	XP_024308587.1:p.Cys1098Phe
XM_024452820.1:c.3110_3111delinsTT (MSH6)	XP_024308588.1:p.Cys1037Phe
XM_024452821.1:c.2996_2997delinsTT (MSH6)	XP_024308589.1:p.Cys999Phe
XM_024452822.1:c.2387_2388delinsTT (MSH6)	XP_024308590.1:p.Cys796Phe
NM_000179.3:c.3293_3294delinsTT (MSH6) MANE Select	NP_000170.1:p.Cys1098Phe
NM_001281492.2:c.2903_2904delinsTT (MSH6)	NP_001268421.1:p.Cys968Phe
NM_001281493.2:c.2387_2388delinsTT (MSH6)	NP_001268422.1:p.Cys796Phe
NM_001281494.2:c.2387_2388delinsTT (MSH6)	NP_001268423.1:p.Cys796Phe