Canonical Allele Identifier: CA2586964931

Gene: MSH6 FBXO11

Linked Data

• gnomAD v4: 2-47806613-A-AGAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806614_47806617dup , CM000664.2:g.47806614_47806617dup	GRCh38
NC_000002.11:g.48033753_48033756dup , CM000664.1:g.48033753_48033756dup	GRCh37
NC_000002.10:g.47887257_47887260dup	NCBI36
NG_007111.1:g.28468_28471dup , LRG_219:g.28468_28471dup
NG_008397.1:g.104059_104062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3667_3670dup (MSH6)	ENSP00000406248.2:p.Phe1224Ter
ENST00000420813.6:c.3667_3670dup (MSH6)	ENSP00000390382.2:p.Phe1224Ter
ENST00000455383.6:c.3667_3670dup (MSH6)	ENSP00000397484.2:p.Phe1224Ter
ENST00000700004.2:c.3580_3583dup (MSH6)	ENSP00000514752.2:p.Phe1195Ter
ENST00000699999.1:n.4638_4641dup (MSH6)
ENST00000700000.1:c.2398_2401dup (MSH6)	ENSP00000514749.1:p.Phe801Ter
ENST00000700002.1:c.3970_3973dup (MSH6)	ENSP00000514750.1:p.Phe1325Ter
ENST00000700003.1:c.1419_1422dup (MSH6)	ENSP00000514751.1:n.1419_1422dup
ENST00000700004.1:c.2737_2740dup (MSH6)	ENSP00000514752.1:p.Phe914Ter
ENST00000700005.1:n.2815_2818dup (MSH6)
ENST00000700006.1:n.5122_5125dup (MSH6)
ENST00000700007.1:n.2559_2562dup (MSH6)
ENST00000700008.1:n.2226_2229dup (MSH6)
ENST00000700009.1:n.2628_2631dup (MSH6)
ENST00000700010.1:n.1373_1376dup (MSH6)
ENST00000700011.1:n.3258_3261dup (MSH6)
ENST00000682451.1:n.4131_4134dup (FBXO11)
ENST00000684712.1:n.4393_4396dup (FBXO11)
ENST00000234420.11:c.3964_3967dup (MSH6) MANE Select	ENSP00000234420.5:p.Phe1323Ter
ENST00000540021.6:c.3574_3577dup (MSH6)	ENSP00000446475.1:p.Phe1193Ter
ENST00000652107.1:c.3667_3670dup (MSH6)	ENSP00000498629.1:p.Phe1224Ter
ENST00000673637.1:c.3667_3670dup (MSH6)	ENSP00000501310.1:p.Phe1224Ter
ENST00000234420.9:c.3964_3967dup (MSH6)	ENSP00000234420.4:p.Phe1323Ter
ENST00000405808.5:c.169+1578_169+1581dup (FBXO11)	ENSP00000385127.1:n.169+1578_169+1581dup
ENST00000434234.5:c.*124+1377_*124+1380dup (FBXO11)	ENSP00000402692.1:n.*124+1377_*124+1380dup
ENST00000445503.5:c.*3311_*3314dup (MSH6)	ENSP00000405294.1:n.*3311_*3314dup
ENST00000538136.1:c.3058_3061dup (MSH6)	ENSP00000438580.1:p.Phe1021Ter
ENST00000540021.5:c.3574_3577dup (MSH6)	ENSP00000446475.1:p.Phe1193Ter
ENST00000614496.4:c.3058_3061dup (MSH6)	ENSP00000477844.1:p.Phe1021Ter
ENST00000622629.4:c.865_868dup (MSH6)	ENSP00000482078.1:p.Phe290Ter
NM_000179.2:c.3964_3967dup , LRG_219t1:c.3964_3967dup (MSH6)	NP_000170.1:p.Phe1323Ter
NM_001281492.1:c.3574_3577dup (MSH6)	NP_001268421.1:p.Phe1193Ter
NM_001281493.1:c.3058_3061dup (MSH6)	NP_001268422.1:p.Phe1021Ter
NM_001281494.1:c.3058_3061dup (MSH6)	NP_001268423.1:p.Phe1021Ter
XM_005264271.1:c.3667_3670dup (MSH6)	XP_005264328.1:p.Phe1224Ter
XM_011532798.1:c.3781_3784dup (MSH6)	XP_011531100.1:p.Phe1262Ter
XM_011532799.1:c.3667_3670dup (MSH6)	XP_011531101.1:p.Phe1224Ter
XM_011532800.1:c.3667_3670dup (MSH6)	XP_011531102.1:p.Phe1224Ter
XM_024452819.1:c.4057_4060dup (MSH6)	XP_024308587.1:p.Phe1354Ter
XM_024452820.1:c.3874_3877dup (MSH6)	XP_024308588.1:p.Phe1293Ter
XM_024452821.1:c.3760_3763dup (MSH6)	XP_024308589.1:p.Phe1255Ter
XM_024452822.1:c.3151_3154dup (MSH6)	XP_024308590.1:p.Phe1052Ter
NM_000179.3:c.3964_3967dup (MSH6) MANE Select	NP_000170.1:p.Phe1323Ter
NM_001281492.2:c.3574_3577dup (MSH6)	NP_001268421.1:p.Phe1193Ter
NM_001281493.2:c.3058_3061dup (MSH6)	NP_001268422.1:p.Phe1021Ter
NM_001281494.2:c.3058_3061dup (MSH6)	NP_001268423.1:p.Phe1021Ter