Canonical Allele Identifier: CA2580067292

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2453193
• ClinVar RCV Id: RCV003182648

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806258_47806261dup , CM000664.2:g.47806258_47806261dup	GRCh38
NC_000002.11:g.48033397_48033400dup , CM000664.1:g.48033397_48033400dup	GRCh37
NC_000002.10:g.47886901_47886904dup	NCBI36
NG_007111.1:g.28112_28115dup , LRG_219:g.28112_28115dup
NG_008397.1:g.104415_104418dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3404_3407dup (MSH6)	ENSP00000406248.2:p.Ala1137ThrfsTer3
ENST00000420813.6:c.3404_3407dup (MSH6)	ENSP00000390382.2:p.Ala1137ThrfsTer3
ENST00000455383.6:c.3404_3407dup (MSH6)	ENSP00000397484.2:p.Ala1137ThrfsTer3
ENST00000700004.2:c.3317_3320dup (MSH6)	ENSP00000514752.2:p.Ala1108ThrfsTer3
ENST00000699999.1:n.4375_4378dup (MSH6)
ENST00000700000.1:c.2135_2138dup (MSH6)	ENSP00000514749.1:p.Ala714ThrfsTer3
ENST00000700002.1:c.3707_3710dup (MSH6)	ENSP00000514750.1:p.Ala1238ThrfsTer3
ENST00000700003.1:c.1156_1159dup (MSH6)	ENSP00000514751.1:n.1156_1159dup
ENST00000700004.1:c.2474_2477dup (MSH6)	ENSP00000514752.1:p.Ala827ThrfsTer3
ENST00000700005.1:n.2552_2555dup (MSH6)
ENST00000700006.1:n.4859_4862dup (MSH6)
ENST00000700007.1:n.2296_2299dup (MSH6)
ENST00000700008.1:n.1870_1873dup (MSH6)
ENST00000700009.1:n.2365_2368dup (MSH6)
ENST00000700010.1:n.1110_1113dup (MSH6)
ENST00000700011.1:n.2995_2998dup (MSH6)
ENST00000682451.1:n.4487_4490dup (FBXO11)
ENST00000684712.1:n.4749_4752dup (FBXO11)
ENST00000234420.11:c.3701_3704dup (MSH6) MANE Select	ENSP00000234420.5:p.Ala1236ThrfsTer3
ENST00000540021.6:c.3311_3314dup (MSH6)	ENSP00000446475.1:p.Ala1106ThrfsTer3
ENST00000652107.1:c.3404_3407dup (MSH6)	ENSP00000498629.1:p.Ala1137ThrfsTer3
ENST00000673637.1:c.3404_3407dup (MSH6)	ENSP00000501310.1:p.Ala1137ThrfsTer3
ENST00000234420.9:c.3701_3704dup (MSH6)	ENSP00000234420.4:p.Ala1236ThrfsTer3
ENST00000405808.5:c.169+1934_169+1937dup (FBXO11)	ENSP00000385127.1:n.169+1934_169+1937dup
ENST00000434234.5:c.*124+1733_*124+1736dup (FBXO11)	ENSP00000402692.1:n.*124+1733_*124+1736dup
ENST00000445503.5:c.*3048_*3051dup (MSH6)	ENSP00000405294.1:n.*3048_*3051dup
ENST00000538136.1:c.2795_2798dup (MSH6)	ENSP00000438580.1:p.Ala934ThrfsTer3
ENST00000540021.5:c.3311_3314dup (MSH6)	ENSP00000446475.1:p.Ala1106ThrfsTer3
ENST00000614496.4:c.2795_2798dup (MSH6)	ENSP00000477844.1:p.Ala934ThrfsTer3
ENST00000622629.4:c.605_608dup (MSH6)	ENSP00000482078.1:p.Ala204ThrfsTer3
NM_000179.2:c.3701_3704dup , LRG_219t1:c.3701_3704dup (MSH6)	NP_000170.1:p.Ala1236ThrfsTer3
NM_001281492.1:c.3311_3314dup (MSH6)	NP_001268421.1:p.Ala1106ThrfsTer3
NM_001281493.1:c.2795_2798dup (MSH6)	NP_001268422.1:p.Ala934ThrfsTer3
NM_001281494.1:c.2795_2798dup (MSH6)	NP_001268423.1:p.Ala934ThrfsTer3
XM_005264271.1:c.3404_3407dup (MSH6)	XP_005264328.1:p.Ala1137ThrfsTer3
XM_011532798.1:c.3518_3521dup (MSH6)	XP_011531100.1:p.Ala1175ThrfsTer3
XM_011532799.1:c.3404_3407dup (MSH6)	XP_011531101.1:p.Ala1137ThrfsTer3
XM_011532800.1:c.3404_3407dup (MSH6)	XP_011531102.1:p.Ala1137ThrfsTer3
XM_024452819.1:c.3701_3704dup (MSH6)	XP_024308587.1:p.Ala1236ThrfsTer3
XM_024452820.1:c.3518_3521dup (MSH6)	XP_024308588.1:p.Ala1175ThrfsTer3
XM_024452821.1:c.3404_3407dup (MSH6)	XP_024308589.1:p.Ala1137ThrfsTer3
XM_024452822.1:c.2795_2798dup (MSH6)	XP_024308590.1:p.Ala934ThrfsTer3
NM_000179.3:c.3701_3704dup (MSH6) MANE Select	NP_000170.1:p.Ala1236ThrfsTer3
NM_001281492.2:c.3311_3314dup (MSH6)	NP_001268421.1:p.Ala1106ThrfsTer3
NM_001281493.2:c.2795_2798dup (MSH6)	NP_001268422.1:p.Ala934ThrfsTer3
NM_001281494.2:c.2795_2798dup (MSH6)	NP_001268423.1:p.Ala934ThrfsTer3