Canonical Allele Identifier: CA2580067310

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2126181
• ClinVar RCV Id: RCV003051528 ; RCV003455667
• gnomAD v4: 2-47806292-T-TTCAACTCACTACCATTCATTAGTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806293_47806317dup , CM000664.2:g.47806293_47806317dup	GRCh38
NC_000002.11:g.48033432_48033456dup , CM000664.1:g.48033432_48033456dup	GRCh37
NC_000002.10:g.47886936_47886960dup	NCBI36
NG_007111.1:g.28147_28171dup , LRG_219:g.28147_28171dup
NG_008397.1:g.104359_104383dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3439_3463dup (MSH6)	ENSP00000406248.2:p.Glu1155ValfsTer29
ENST00000420813.6:c.3439_3463dup (MSH6)	ENSP00000390382.2:p.Glu1155ValfsTer29
ENST00000455383.6:c.3439_3463dup (MSH6)	ENSP00000397484.2:p.Glu1155ValfsTer29
ENST00000700004.2:c.3352_3376dup (MSH6)	ENSP00000514752.2:p.Glu1126ValfsTer29
ENST00000699999.1:n.4410_4434dup (MSH6)
ENST00000700000.1:c.2170_2194dup (MSH6)	ENSP00000514749.1:p.Glu732ValfsTer29
ENST00000700002.1:c.3742_3766dup (MSH6)	ENSP00000514750.1:p.Glu1256ValfsTer29
ENST00000700003.1:c.1191_1215dup (MSH6)	ENSP00000514751.1:n.1191_1215dup
ENST00000700004.1:c.2509_2533dup (MSH6)	ENSP00000514752.1:p.Glu845ValfsTer29
ENST00000700005.1:n.2587_2611dup (MSH6)
ENST00000700006.1:n.4894_4918dup (MSH6)
ENST00000700007.1:n.2331_2355dup (MSH6)
ENST00000700008.1:n.1905_1929dup (MSH6)
ENST00000700009.1:n.2400_2424dup (MSH6)
ENST00000700010.1:n.1145_1169dup (MSH6)
ENST00000700011.1:n.3030_3054dup (MSH6)
ENST00000682451.1:n.4431_4455dup (FBXO11)
ENST00000684712.1:n.4693_4717dup (FBXO11)
ENST00000234420.11:c.3736_3760dup (MSH6) MANE Select	ENSP00000234420.5:p.Glu1254ValfsTer29
ENST00000540021.6:c.3346_3370dup (MSH6)	ENSP00000446475.1:p.Glu1124ValfsTer29
ENST00000652107.1:c.3439_3463dup (MSH6)	ENSP00000498629.1:p.Glu1155ValfsTer29
ENST00000673637.1:c.3439_3463dup (MSH6)	ENSP00000501310.1:p.Glu1155ValfsTer29
ENST00000234420.9:c.3736_3760dup (MSH6)	ENSP00000234420.4:p.Glu1254ValfsTer29
ENST00000405808.5:c.169+1878_169+1902dup (FBXO11)	ENSP00000385127.1:n.169+1878_169+1902dup
ENST00000434234.5:c.*124+1677_*124+1701dup (FBXO11)	ENSP00000402692.1:n.*124+1677_*124+1701dup
ENST00000445503.5:c.*3083_*3107dup (MSH6)	ENSP00000405294.1:n.*3083_*3107dup
ENST00000538136.1:c.2830_2854dup (MSH6)	ENSP00000438580.1:p.Glu952ValfsTer29
ENST00000540021.5:c.3346_3370dup (MSH6)	ENSP00000446475.1:p.Glu1124ValfsTer29
ENST00000614496.4:c.2830_2854dup (MSH6)	ENSP00000477844.1:p.Glu952ValfsTer29
ENST00000622629.4:c.640_662dup (MSH6)
NM_000179.2:c.3736_3760dup , LRG_219t1:c.3736_3760dup (MSH6)	NP_000170.1:p.Glu1254ValfsTer29
NM_001281492.1:c.3346_3370dup (MSH6)	NP_001268421.1:p.Glu1124ValfsTer29
NM_001281493.1:c.2830_2854dup (MSH6)	NP_001268422.1:p.Glu952ValfsTer29
NM_001281494.1:c.2830_2854dup (MSH6)	NP_001268423.1:p.Glu952ValfsTer29
XM_005264271.1:c.3439_3463dup (MSH6)	XP_005264328.1:p.Glu1155ValfsTer29
XM_011532798.1:c.3553_3577dup (MSH6)	XP_011531100.1:p.Glu1193ValfsTer29
XM_011532799.1:c.3439_3463dup (MSH6)	XP_011531101.1:p.Glu1155ValfsTer29
XM_011532800.1:c.3439_3463dup (MSH6)	XP_011531102.1:p.Glu1155ValfsTer29
XM_024452819.1:c.3736_3760dup (MSH6)	XP_024308587.1:p.Glu1254ValfsTer36
XM_024452820.1:c.3553_3577dup (MSH6)	XP_024308588.1:p.Glu1193ValfsTer36
XM_024452821.1:c.3439_3463dup (MSH6)	XP_024308589.1:p.Glu1155ValfsTer36
XM_024452822.1:c.2830_2854dup (MSH6)	XP_024308590.1:p.Glu952ValfsTer36
NM_000179.3:c.3736_3760dup (MSH6) MANE Select	NP_000170.1:p.Glu1254ValfsTer29
NM_001281492.2:c.3346_3370dup (MSH6)	NP_001268421.1:p.Glu1124ValfsTer29
NM_001281493.2:c.2830_2854dup (MSH6)	NP_001268422.1:p.Glu952ValfsTer29
NM_001281494.2:c.2830_2854dup (MSH6)	NP_001268423.1:p.Glu952ValfsTer29