Canonical Allele Identifier: CA1139656963

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 918575
• ClinVar RCV Id: RCV001176236
• dbSNP Id: rs267608092

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803557_47803559del , CM000664.2:g.47803557_47803559del	GRCh38
NC_000002.11:g.48030696_48030698del , CM000664.1:g.48030696_48030698del	GRCh37
NC_000002.10:g.47884200_47884202del	NCBI36
NG_007111.1:g.25411_25413del , LRG_219:g.25411_25413del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3013_3015del (MSH6)	ENSP00000406248.2:p.Phe1005del
ENST00000420813.6:c.3013_3015del (MSH6)	ENSP00000390382.2:p.Phe1005del
ENST00000455383.6:c.3013_3015del (MSH6)	ENSP00000397484.2:p.Phe1005del
ENST00000700004.2:c.3173-2061_3173-2059del (MSH6)	ENSP00000514752.2:n.3173-2061_3173-2059de...
ENST00000699999.1:n.3394_3396del (MSH6)
ENST00000700000.1:c.1744_1746del (MSH6)	ENSP00000514749.1:p.Phe582del
ENST00000700002.1:c.3316_3318del (MSH6)	ENSP00000514750.1:p.Phe1106del
ENST00000700003.1:c.765_767del (MSH6)	ENSP00000514751.1:n.765_767del
ENST00000700004.1:c.2330-2061_2330-2059del (MSH6)	ENSP00000514752.1:n.2330-2061_2330-2059de...
ENST00000700005.1:n.2161_2163del (MSH6)
ENST00000700006.1:n.2158_2160del (MSH6)
ENST00000700007.1:n.1315_1317del (MSH6)
ENST00000700008.1:n.889_891del (MSH6)
ENST00000700009.1:n.888_890del (MSH6)
ENST00000700010.1:n.719_721del (MSH6)
ENST00000700011.1:n.790_792del (MSH6)
ENST00000234420.11:c.3310_3312del (MSH6) MANE Select	ENSP00000234420.5:p.Phe1104del
ENST00000540021.6:c.2920_2922del (MSH6)	ENSP00000446475.1:p.Phe974del
ENST00000652107.1:c.3013_3015del (MSH6)	ENSP00000498629.1:p.Phe1005del
ENST00000673637.1:c.3013_3015del (MSH6)	ENSP00000501310.1:p.Phe1005del
ENST00000234420.9:c.3310_3312del (MSH6)	ENSP00000234420.4:p.Phe1104del
ENST00000405808.5:c.169+4640_169+4642del (FBXO11)	ENSP00000385127.1:n.169+4640_169+4642del
ENST00000434234.5:c.*124+4439_*124+4441del (FBXO11)	ENSP00000402692.1:n.*124+4439_*124+4441de...
ENST00000445503.5:c.*2657_*2659del (MSH6)	ENSP00000405294.1:n.*2657_*2659del
ENST00000538136.1:c.2404_2406del (MSH6)	ENSP00000438580.1:p.Phe802del
ENST00000540021.5:c.2920_2922del (MSH6)	ENSP00000446475.1:p.Phe974del
ENST00000614496.4:c.2404_2406del (MSH6)	ENSP00000477844.1:p.Phe802del
ENST00000622629.4:c.214_216del (MSH6)	ENSP00000482078.1:p.Phe72del
NM_000179.2:c.3310_3312del , LRG_219t1:c.3310_3312del (MSH6)	NP_000170.1:p.Phe1104del
NM_001281492.1:c.2920_2922del (MSH6)	NP_001268421.1:p.Phe974del
NM_001281493.1:c.2404_2406del (MSH6)	NP_001268422.1:p.Phe802del
NM_001281494.1:c.2404_2406del (MSH6)	NP_001268423.1:p.Phe802del
XM_005264271.1:c.3013_3015del (MSH6)	XP_005264328.1:p.Phe1005del
XM_011532798.1:c.3127_3129del (MSH6)	XP_011531100.1:p.Phe1043del
XM_011532799.1:c.3013_3015del (MSH6)	XP_011531101.1:p.Phe1005del
XM_011532800.1:c.3013_3015del (MSH6)	XP_011531102.1:p.Phe1005del
XM_024452819.1:c.3310_3312del (MSH6)	XP_024308587.1:p.Phe1104del
XM_024452820.1:c.3127_3129del (MSH6)	XP_024308588.1:p.Phe1043del
XM_024452821.1:c.3013_3015del (MSH6)	XP_024308589.1:p.Phe1005del
XM_024452822.1:c.2404_2406del (MSH6)	XP_024308590.1:p.Phe802del
NM_000179.3:c.3310_3312del (MSH6) MANE Select	NP_000170.1:p.Phe1104del
NM_001281492.2:c.2920_2922del (MSH6)	NP_001268421.1:p.Phe974del
NM_001281493.2:c.2404_2406del (MSH6)	NP_001268422.1:p.Phe802del
NM_001281494.2:c.2404_2406del (MSH6)	NP_001268423.1:p.Phe802del