Canonical Allele Identifier: CA1139656975

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 872794
• ClinVar RCV Id: RCV001093451
• dbSNP Id: rs1670049545

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806273_47806293dup , CM000664.2:g.47806273_47806293dup	GRCh38
NC_000002.11:g.48033412_48033432dup , CM000664.1:g.48033412_48033432dup	GRCh37
NC_000002.10:g.47886916_47886936dup	NCBI36
NG_007111.1:g.28127_28147dup , LRG_219:g.28127_28147dup
NG_008397.1:g.104383_104403dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3419_3439dup (MSH6)	ENSP00000406248.2:p.Phe1146_Ser1147insLeuLysCysArgThrLeuPhe
ENST00000420813.6:c.3419_3439dup (MSH6)	ENSP00000390382.2:p.Phe1146_Ser1147insLeuLysCysArgThrLeuPhe
ENST00000455383.6:c.3419_3439dup (MSH6)	ENSP00000397484.2:p.Phe1146_Ser1147insLeuLysCysArgThrLeuPhe
ENST00000700004.2:c.3332_3352dup (MSH6)	ENSP00000514752.2:p.Phe1117_Ser1118insLeuLysCysArgThrLeuPhe
ENST00000699999.1:n.4390_4410dup (MSH6)
ENST00000700000.1:c.2150_2170dup (MSH6)	ENSP00000514749.1:p.Phe723_Ser724insLeuLysCysArgThrLeuPhe
ENST00000700002.1:c.3722_3742dup (MSH6)	ENSP00000514750.1:p.Phe1247_Ser1248insLeuLysCysArgThrLeuPhe
ENST00000700003.1:c.1171_1191dup (MSH6)	ENSP00000514751.1:n.1171_1191dup
ENST00000700004.1:c.2489_2509dup (MSH6)	ENSP00000514752.1:p.Phe836_Ser837insLeuLysCysArgThrLeuPhe
ENST00000700005.1:n.2567_2587dup (MSH6)
ENST00000700006.1:n.4874_4894dup (MSH6)
ENST00000700007.1:n.2311_2331dup (MSH6)
ENST00000700008.1:n.1885_1905dup (MSH6)
ENST00000700009.1:n.2380_2400dup (MSH6)
ENST00000700010.1:n.1125_1145dup (MSH6)
ENST00000700011.1:n.3010_3030dup (MSH6)
ENST00000682451.1:n.4455_4475dup (FBXO11)
ENST00000684712.1:n.4717_4737dup (FBXO11)
ENST00000234420.11:c.3716_3736dup (MSH6) MANE Select	ENSP00000234420.5:p.Phe1245_Ser1246insLeuLysCysArgThrLeuPhe
ENST00000540021.6:c.3326_3346dup (MSH6)	ENSP00000446475.1:p.Phe1115_Ser1116insLeuLysCysArgThrLeuPhe
ENST00000652107.1:c.3419_3439dup (MSH6)	ENSP00000498629.1:p.Phe1146_Ser1147insLeuLysCysArgThrLeuPhe
ENST00000673637.1:c.3419_3439dup (MSH6)	ENSP00000501310.1:p.Phe1146_Ser1147insLeuLysCysArgThrLeuPhe
ENST00000234420.9:c.3716_3736dup (MSH6)	ENSP00000234420.4:p.Phe1245_Ser1246insLeuLysCysArgThrLeuPhe
ENST00000405808.5:c.169+1902_169+1922dup (FBXO11)	ENSP00000385127.1:n.169+1902_169+1922dup
ENST00000434234.5:c.*124+1701_*124+1721dup (FBXO11)	ENSP00000402692.1:n.*124+1701_*124+1721dup
ENST00000445503.5:c.*3063_*3083dup (MSH6)	ENSP00000405294.1:n.*3063_*3083dup
ENST00000538136.1:c.2810_2830dup (MSH6)	ENSP00000438580.1:p.Phe943_Ser944insLeuLysCysArgThrLeuPhe
ENST00000540021.5:c.3326_3346dup (MSH6)	ENSP00000446475.1:p.Phe1115_Ser1116insLeuLysCysArgThrLeuPhe
ENST00000614496.4:c.2810_2830dup (MSH6)	ENSP00000477844.1:p.Phe943_Ser944insLeuLysCysArgThrLeuPhe
ENST00000622629.4:c.620_640dup (MSH6)	ENSP00000482078.1:p.Phe213_Ser214insLeuLysCysArgThrLeuPhe
NM_000179.2:c.3716_3736dup , LRG_219t1:c.3716_3736dup (MSH6)	NP_000170.1:p.Phe1245_Ser1246insLeuLysCysArgThrLeuPhe
NM_001281492.1:c.3326_3346dup (MSH6)	NP_001268421.1:p.Phe1115_Ser1116insLeuLysCysArgThrLeuPhe
NM_001281493.1:c.2810_2830dup (MSH6)	NP_001268422.1:p.Phe943_Ser944insLeuLysCysArgThrLeuPhe
NM_001281494.1:c.2810_2830dup (MSH6)	NP_001268423.1:p.Phe943_Ser944insLeuLysCysArgThrLeuPhe
XM_005264271.1:c.3419_3439dup (MSH6)	XP_005264328.1:p.Phe1146_Ser1147insLeuLysCysArgThrLeuPhe
XM_011532798.1:c.3533_3553dup (MSH6)	XP_011531100.1:p.Phe1184_Ser1185insLeuLysCysArgThrLeuPhe
XM_011532799.1:c.3419_3439dup (MSH6)	XP_011531101.1:p.Phe1146_Ser1147insLeuLysCysArgThrLeuPhe
XM_011532800.1:c.3419_3439dup (MSH6)	XP_011531102.1:p.Phe1146_Ser1147insLeuLysCysArgThrLeuPhe
XM_024452819.1:c.3716_3736dup (MSH6)	XP_024308587.1:p.Phe1245_Ser1246insLeuLysCysArgThrLeuPhe
XM_024452820.1:c.3533_3553dup (MSH6)	XP_024308588.1:p.Phe1184_Ser1185insLeuLysCysArgThrLeuPhe
XM_024452821.1:c.3419_3439dup (MSH6)	XP_024308589.1:p.Phe1146_Ser1147insLeuLysCysArgThrLeuPhe
XM_024452822.1:c.2810_2830dup (MSH6)	XP_024308590.1:p.Phe943_Ser944insLeuLysCysArgThrLeuPhe
NM_000179.3:c.3716_3736dup (MSH6) MANE Select	NP_000170.1:p.Phe1245_Ser1246insLeuLysCysArgThrLeuPhe
NM_001281492.2:c.3326_3346dup (MSH6)	NP_001268421.1:p.Phe1115_Ser1116insLeuLysCysArgThrLeuPhe
NM_001281493.2:c.2810_2830dup (MSH6)	NP_001268422.1:p.Phe943_Ser944insLeuLysCysArgThrLeuPhe
NM_001281494.2:c.2810_2830dup (MSH6)	NP_001268423.1:p.Phe943_Ser944insLeuLysCysArgThrLeuPhe