Canonical Allele Identifier: CA2658968748

Gene: MSH6 FBXO11

Linked Data

• gnomAD v4: 2-47806637-A-ACTACGATTATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806639_47806650dup , CM000664.2:g.47806639_47806650dup	GRCh38
NC_000002.11:g.48033778_48033789dup , CM000664.1:g.48033778_48033789dup	GRCh37
NC_000002.10:g.47887282_47887293dup	NCBI36
NG_007111.1:g.28493_28504dup , LRG_219:g.28493_28504dup
NG_008397.1:g.104027_104038dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3692_3703dup (MSH6)	ENSP00000406248.2:p.Phe1234_Arg1235insLeu...
ENST00000420813.6:c.3692_3703dup (MSH6)	ENSP00000390382.2:p.Phe1234_Arg1235insLeu...
ENST00000455383.6:c.3692_3703dup (MSH6)	ENSP00000397484.2:p.Phe1234_Arg1235insLeu...
ENST00000700004.2:c.3605_3616dup (MSH6)	ENSP00000514752.2:p.Phe1205_Arg1206insLeu...
ENST00000699999.1:n.4663_4674dup (MSH6)
ENST00000700000.1:c.2423_2434dup (MSH6)	ENSP00000514749.1:p.Phe811_Arg812insLeuAr...
ENST00000700002.1:c.3995_4006dup (MSH6)	ENSP00000514750.1:p.Phe1335_Arg1336insLeu...
ENST00000700003.1:c.1444_1455dup (MSH6)	ENSP00000514751.1:n.1444_1455dup
ENST00000700004.1:c.2762_2773dup (MSH6)	ENSP00000514752.1:p.Phe924_Arg925insLeuAr...
ENST00000700005.1:n.2840_2851dup (MSH6)
ENST00000700006.1:n.5147_5158dup (MSH6)
ENST00000700007.1:n.2584_2595dup (MSH6)
ENST00000700008.1:n.2251_2262dup (MSH6)
ENST00000700009.1:n.2653_2664dup (MSH6)
ENST00000700010.1:n.1398_1409dup (MSH6)
ENST00000700011.1:n.3283_3294dup (MSH6)
ENST00000682451.1:n.4099_4110dup (FBXO11)
ENST00000684712.1:n.4361_4372dup (FBXO11)
ENST00000234420.11:c.3989_4000dup (MSH6) MANE Select	ENSP00000234420.5:p.Phe1333_Arg1334insLeu...
ENST00000540021.6:c.3599_3610dup (MSH6)	ENSP00000446475.1:p.Phe1203_Arg1204insLeu...
ENST00000652107.1:c.3692_3703dup (MSH6)	ENSP00000498629.1:p.Phe1234_Arg1235insLeu...
ENST00000673637.1:c.3692_3703dup (MSH6)	ENSP00000501310.1:p.Phe1234_Arg1235insLeu...
ENST00000234420.9:c.3989_4000dup (MSH6)	ENSP00000234420.4:p.Phe1333_Arg1334insLeu...
ENST00000405808.5:c.169+1546_169+1557dup (FBXO11)	ENSP00000385127.1:n.169+1546_169+1557dup
ENST00000434234.5:c.*124+1345_*124+1356dup (FBXO11)	ENSP00000402692.1:n.*124+1345_*124+1356du...
ENST00000445503.5:c.*3336_*3347dup (MSH6)	ENSP00000405294.1:n.*3336_*3347dup
ENST00000538136.1:c.3083_3094dup (MSH6)	ENSP00000438580.1:p.Phe1031_Arg1032insLeu...
ENST00000540021.5:c.3599_3610dup (MSH6)	ENSP00000446475.1:p.Phe1203_Arg1204insLeu...
ENST00000614496.4:c.3083_3094dup (MSH6)	ENSP00000477844.1:p.Phe1031_Arg1032insLeu...
ENST00000622629.4:c.890_901dup (MSH6)	ENSP00000482078.1:p.Phe300_Arg301insLeuAr...
NM_000179.2:c.3989_4000dup , LRG_219t1:c.3989_4000dup (MSH6)	NP_000170.1:p.Phe1333_Arg1334insLeuArgLeu...
NM_001281492.1:c.3599_3610dup (MSH6)	NP_001268421.1:p.Phe1203_Arg1204insLeuArg...
NM_001281493.1:c.3083_3094dup (MSH6)	NP_001268422.1:p.Phe1031_Arg1032insLeuArg...
NM_001281494.1:c.3083_3094dup (MSH6)	NP_001268423.1:p.Phe1031_Arg1032insLeuArg...
XM_005264271.1:c.3692_3703dup (MSH6)	XP_005264328.1:p.Phe1234_Arg1235insLeuArg...
XM_011532798.1:c.3806_3817dup (MSH6)	XP_011531100.1:p.Phe1272_Arg1273insLeuArg...
XM_011532799.1:c.3692_3703dup (MSH6)	XP_011531101.1:p.Phe1234_Arg1235insLeuArg...
XM_011532800.1:c.3692_3703dup (MSH6)	XP_011531102.1:p.Phe1234_Arg1235insLeuArg...
XM_024452819.1:c.4082_4093dup (MSH6)	XP_024308587.1:p.Phe1364_Arg1365insLeuArg...
XM_024452820.1:c.3899_3910dup (MSH6)	XP_024308588.1:p.Phe1303_Arg1304insLeuArg...
XM_024452821.1:c.3785_3796dup (MSH6)	XP_024308589.1:p.Phe1265_Arg1266insLeuArg...
XM_024452822.1:c.3176_3187dup (MSH6)	XP_024308590.1:p.Phe1062_Arg1063insLeuArg...
NM_000179.3:c.3989_4000dup (MSH6) MANE Select	NP_000170.1:p.Phe1333_Arg1334insLeuArgLeu...
NM_001281492.2:c.3599_3610dup (MSH6)	NP_001268421.1:p.Phe1203_Arg1204insLeuArg...
NM_001281493.2:c.3083_3094dup (MSH6)	NP_001268422.1:p.Phe1031_Arg1032insLeuArg...
NM_001281494.2:c.3083_3094dup (MSH6)	NP_001268423.1:p.Phe1031_Arg1032insLeuArg...