Canonical Allele Identifier: CA2658967485

Gene: MSH6 FBXO11

Linked Data

• gnomAD v4: 2-47806264-C-CTGAGACTATAAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806265_47806278dup , CM000664.2:g.47806265_47806278dup	GRCh38
NC_000002.11:g.48033404_48033417dup , CM000664.1:g.48033404_48033417dup	GRCh37
NC_000002.10:g.47886908_47886921dup	NCBI36
NG_007111.1:g.28119_28132dup , LRG_219:g.28119_28132dup
NG_008397.1:g.104398_104411dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3411_3424dup (MSH6)	ENSP00000406248.2:p.Cys1142LeufsTer4
ENST00000420813.6:c.3411_3424dup (MSH6)	ENSP00000390382.2:p.Cys1142LeufsTer4
ENST00000455383.6:c.3411_3424dup (MSH6)	ENSP00000397484.2:p.Cys1142LeufsTer4
ENST00000700004.2:c.3324_3337dup (MSH6)	ENSP00000514752.2:p.Cys1113LeufsTer4
ENST00000699999.1:n.4382_4395dup (MSH6)
ENST00000700000.1:c.2142_2155dup (MSH6)	ENSP00000514749.1:p.Cys719LeufsTer4
ENST00000700002.1:c.3714_3727dup (MSH6)	ENSP00000514750.1:p.Cys1243LeufsTer4
ENST00000700003.1:c.1163_1176dup (MSH6)	ENSP00000514751.1:n.1163_1176dup
ENST00000700004.1:c.2481_2494dup (MSH6)	ENSP00000514752.1:p.Cys832LeufsTer4
ENST00000700005.1:n.2559_2572dup (MSH6)
ENST00000700006.1:n.4866_4879dup (MSH6)
ENST00000700007.1:n.2303_2316dup (MSH6)
ENST00000700008.1:n.1877_1890dup (MSH6)
ENST00000700009.1:n.2372_2385dup (MSH6)
ENST00000700010.1:n.1117_1130dup (MSH6)
ENST00000700011.1:n.3002_3015dup (MSH6)
ENST00000682451.1:n.4470_4483dup (FBXO11)
ENST00000684712.1:n.4732_4745dup (FBXO11)
ENST00000234420.11:c.3708_3721dup (MSH6) MANE Select	ENSP00000234420.5:p.Cys1241LeufsTer4
ENST00000540021.6:c.3318_3331dup (MSH6)	ENSP00000446475.1:p.Cys1111LeufsTer4
ENST00000652107.1:c.3411_3424dup (MSH6)	ENSP00000498629.1:p.Cys1142LeufsTer4
ENST00000673637.1:c.3411_3424dup (MSH6)	ENSP00000501310.1:p.Cys1142LeufsTer4
ENST00000234420.9:c.3708_3721dup (MSH6)	ENSP00000234420.4:p.Cys1241LeufsTer4
ENST00000405808.5:c.169+1917_169+1930dup (FBXO11)	ENSP00000385127.1:n.169+1917_169+1930dup
ENST00000434234.5:c.*124+1716_*124+1729dup (FBXO11)	ENSP00000402692.1:n.*124+1716_*124+1729du...
ENST00000445503.5:c.*3055_*3068dup (MSH6)	ENSP00000405294.1:n.*3055_*3068dup
ENST00000538136.1:c.2802_2815dup (MSH6)	ENSP00000438580.1:p.Cys939LeufsTer4
ENST00000540021.5:c.3318_3331dup (MSH6)	ENSP00000446475.1:p.Cys1111LeufsTer4
ENST00000614496.4:c.2802_2815dup (MSH6)	ENSP00000477844.1:p.Cys939LeufsTer4
ENST00000622629.4:c.612_625dup (MSH6)	ENSP00000482078.1:p.Cys209LeufsTer4
NM_000179.2:c.3708_3721dup , LRG_219t1:c.3708_3721dup (MSH6)	NP_000170.1:p.Cys1241LeufsTer4
NM_001281492.1:c.3318_3331dup (MSH6)	NP_001268421.1:p.Cys1111LeufsTer4
NM_001281493.1:c.2802_2815dup (MSH6)	NP_001268422.1:p.Cys939LeufsTer4
NM_001281494.1:c.2802_2815dup (MSH6)	NP_001268423.1:p.Cys939LeufsTer4
XM_005264271.1:c.3411_3424dup (MSH6)	XP_005264328.1:p.Cys1142LeufsTer4
XM_011532798.1:c.3525_3538dup (MSH6)	XP_011531100.1:p.Cys1180LeufsTer4
XM_011532799.1:c.3411_3424dup (MSH6)	XP_011531101.1:p.Cys1142LeufsTer4
XM_011532800.1:c.3411_3424dup (MSH6)	XP_011531102.1:p.Cys1142LeufsTer4
XM_024452819.1:c.3708_3721dup (MSH6)	XP_024308587.1:p.Cys1241LeufsTer4
XM_024452820.1:c.3525_3538dup (MSH6)	XP_024308588.1:p.Cys1180LeufsTer4
XM_024452821.1:c.3411_3424dup (MSH6)	XP_024308589.1:p.Cys1142LeufsTer4
XM_024452822.1:c.2802_2815dup (MSH6)	XP_024308590.1:p.Cys939LeufsTer4
NM_000179.3:c.3708_3721dup (MSH6) MANE Select	NP_000170.1:p.Cys1241LeufsTer4
NM_001281492.2:c.3318_3331dup (MSH6)	NP_001268421.1:p.Cys1111LeufsTer4
NM_001281493.2:c.2802_2815dup (MSH6)	NP_001268422.1:p.Cys939LeufsTer4
NM_001281494.2:c.2802_2815dup (MSH6)	NP_001268423.1:p.Cys939LeufsTer4