Canonical Allele Identifier: CA2697548063

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2755240
• ClinVar RCV Id: RCV003593788

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804985_47804986insT , CM000664.2:g.47804985_47804986insT	GRCh38
NC_000002.11:g.48032124_48032125insT , CM000664.1:g.48032124_48032125insT	GRCh37
NC_000002.10:g.47885628_47885629insT	NCBI36
NG_007111.1:g.26839_26840insT , LRG_219:g.26839_26840insT
NG_008397.1:g.105690_105691insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3217_3218insT (MSH6)	ENSP00000406248.2:p.Arg1073MetfsTer5
ENST00000420813.6:c.3217_3218insT (MSH6)	ENSP00000390382.2:p.Arg1073MetfsTer5
ENST00000455383.6:c.3217_3218insT (MSH6)	ENSP00000397484.2:p.Arg1073MetfsTer5
ENST00000700004.2:c.3173-633_3173-632insT (MSH6)	ENSP00000514752.2:n.3173-633_3173-632insT
ENST00000699999.1:n.3598_3599insT (MSH6)
ENST00000700000.1:c.1948_1949insT (MSH6)	ENSP00000514749.1:p.Arg650MetfsTer5
ENST00000700002.1:c.3520_3521insT (MSH6)	ENSP00000514750.1:p.Arg1174MetfsTer5
ENST00000700003.1:c.969_970insT (MSH6)	ENSP00000514751.1:n.969_970insT
ENST00000700004.1:c.2330-633_2330-632insT (MSH6)	ENSP00000514752.1:n.2330-633_2330-632insT
ENST00000700005.1:n.2365_2366insT (MSH6)
ENST00000700006.1:n.3586_3587insT (MSH6)
ENST00000700007.1:n.1519_1520insT (MSH6)
ENST00000700008.1:n.1093_1094insT (MSH6)
ENST00000700009.1:n.1092_1093insT (MSH6)
ENST00000700010.1:n.923_924insT (MSH6)
ENST00000700011.1:n.2218_2219insT (MSH6)
ENST00000234420.11:c.3514_3515insT (MSH6) MANE Select	ENSP00000234420.5:p.Arg1172MetfsTer5
ENST00000540021.6:c.3124_3125insT (MSH6)	ENSP00000446475.1:p.Arg1042MetfsTer5
ENST00000652107.1:c.3217_3218insT (MSH6)	ENSP00000498629.1:p.Arg1073MetfsTer5
ENST00000673637.1:c.3217_3218insT (MSH6)	ENSP00000501310.1:p.Arg1073MetfsTer5
ENST00000234420.9:c.3514_3515insT (MSH6)	ENSP00000234420.4:p.Arg1172MetfsTer5
ENST00000405808.5:c.169+3209_169+3210insA (FBXO11)	ENSP00000385127.1:n.169+3209_169+3210insA
ENST00000434234.5:c.*124+3008_*124+3009insA (FBXO11)	ENSP00000402692.1:n.*124+3008_*124+3009insA
ENST00000445503.5:c.*2861_*2862insT (MSH6)	ENSP00000405294.1:n.*2861_*2862insT
ENST00000538136.1:c.2608_2609insT (MSH6)	ENSP00000438580.1:p.Arg870MetfsTer5
ENST00000540021.5:c.3124_3125insT (MSH6)	ENSP00000446475.1:p.Arg1042MetfsTer5
ENST00000614496.4:c.2608_2609insT (MSH6)	ENSP00000477844.1:p.Arg870MetfsTer5
ENST00000622629.4:c.418_419insT (MSH6)	ENSP00000482078.1:p.Arg140MetfsTer5
NM_000179.2:c.3514_3515insT , LRG_219t1:c.3514_3515insT (MSH6)	NP_000170.1:p.Arg1172MetfsTer5
NM_001281492.1:c.3124_3125insT (MSH6)	NP_001268421.1:p.Arg1042MetfsTer5
NM_001281493.1:c.2608_2609insT (MSH6)	NP_001268422.1:p.Arg870MetfsTer5
NM_001281494.1:c.2608_2609insT (MSH6)	NP_001268423.1:p.Arg870MetfsTer5
XM_005264271.1:c.3217_3218insT (MSH6)	XP_005264328.1:p.Arg1073MetfsTer5
XM_011532798.1:c.3331_3332insT (MSH6)	XP_011531100.1:p.Arg1111MetfsTer5
XM_011532799.1:c.3217_3218insT (MSH6)	XP_011531101.1:p.Arg1073MetfsTer5
XM_011532800.1:c.3217_3218insT (MSH6)	XP_011531102.1:p.Arg1073MetfsTer5
XM_024452819.1:c.3514_3515insT (MSH6)	XP_024308587.1:p.Arg1172MetfsTer5
XM_024452820.1:c.3331_3332insT (MSH6)	XP_024308588.1:p.Arg1111MetfsTer5
XM_024452821.1:c.3217_3218insT (MSH6)	XP_024308589.1:p.Arg1073MetfsTer5
XM_024452822.1:c.2608_2609insT (MSH6)	XP_024308590.1:p.Arg870MetfsTer5
NM_000179.3:c.3514_3515insT (MSH6) MANE Select	NP_000170.1:p.Arg1172MetfsTer5
NM_001281492.2:c.3124_3125insT (MSH6)	NP_001268421.1:p.Arg1042MetfsTer5
NM_001281493.2:c.2608_2609insT (MSH6)	NP_001268422.1:p.Arg870MetfsTer5
NM_001281494.2:c.2608_2609insT (MSH6)	NP_001268423.1:p.Arg870MetfsTer5