Canonical Allele Identifier: CA1139656973

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 971730
• ClinVar RCV Id: RCV001247576
• dbSNP Id: rs1670040394

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806212_47806215delinsCC , CM000664.2:g.47806212_47806215delinsCC	GRCh38
NC_000002.11:g.48033351_48033354delinsCC , CM000664.1:g.48033351_48033354delinsCC	GRCh37
NC_000002.10:g.47886855_47886858delinsCC	NCBI36
NG_007111.1:g.28066_28069delinsCC , LRG_219:g.28066_28069delinsCC
NG_008397.1:g.104461_104464delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3358_3361delinsCC (MSH6)	ENSP00000406248.2:p.Thr1120ProfsTer4
ENST00000420813.6:c.3358_3361delinsCC (MSH6)	ENSP00000390382.2:p.Thr1120ProfsTer4
ENST00000455383.6:c.3358_3361delinsCC (MSH6)	ENSP00000397484.2:p.Thr1120ProfsTer4
ENST00000700004.2:c.3271_3274delinsCC (MSH6)	ENSP00000514752.2:p.Thr1091ProfsTer4
ENST00000699999.1:n.4329_4332delinsCC (MSH6)
ENST00000700000.1:c.2089_2092delinsCC (MSH6)	ENSP00000514749.1:p.Thr697ProfsTer4
ENST00000700002.1:c.3661_3664delinsCC (MSH6)	ENSP00000514750.1:p.Thr1221ProfsTer4
ENST00000700003.1:c.1110_1113delinsCC (MSH6)	ENSP00000514751.1:n.1110_1113delinsCC
ENST00000700004.1:c.2428_2431delinsCC (MSH6)	ENSP00000514752.1:p.Thr810ProfsTer4
ENST00000700005.1:n.2506_2509delinsCC (MSH6)
ENST00000700006.1:n.4813_4816delinsCC (MSH6)
ENST00000700007.1:n.2250_2253delinsCC (MSH6)
ENST00000700008.1:n.1824_1827delinsCC (MSH6)
ENST00000700009.1:n.2319_2322delinsCC (MSH6)
ENST00000700010.1:n.1064_1067delinsCC (MSH6)
ENST00000700011.1:n.2949_2952delinsCC (MSH6)
ENST00000682451.1:n.4533_4536delinsGG (FBXO11)
ENST00000684712.1:n.4795_4798delinsGG (FBXO11)
ENST00000234420.11:c.3655_3658delinsCC (MSH6) MANE Select	ENSP00000234420.5:p.Thr1219ProfsTer4
ENST00000540021.6:c.3265_3268delinsCC (MSH6)	ENSP00000446475.1:p.Thr1089ProfsTer4
ENST00000652107.1:c.3358_3361delinsCC (MSH6)	ENSP00000498629.1:p.Thr1120ProfsTer4
ENST00000673637.1:c.3358_3361delinsCC (MSH6)	ENSP00000501310.1:p.Thr1120ProfsTer4
ENST00000234420.9:c.3655_3658delinsCC (MSH6)	ENSP00000234420.4:p.Thr1219ProfsTer4
ENST00000405808.5:c.169+1980_169+1983delinsGG (FBXO11)	ENSP00000385127.1:n.169+1980_169+1983delinsGG
ENST00000434234.5:c.*124+1779_*124+1782delinsGG (FBXO11)	ENSP00000402692.1:n.*124+1779_*124+1782delinsGG
ENST00000445503.5:c.*3002_*3005delinsCC (MSH6)	ENSP00000405294.1:n.*3002_*3005delinsCC
ENST00000538136.1:c.2749_2752delinsCC (MSH6)	ENSP00000438580.1:p.Thr917ProfsTer4
ENST00000540021.5:c.3265_3268delinsCC (MSH6)	ENSP00000446475.1:p.Thr1089ProfsTer4
ENST00000614496.4:c.2749_2752delinsCC (MSH6)	ENSP00000477844.1:p.Thr917ProfsTer4
ENST00000622629.4:c.559_562delinsCC (MSH6)	ENSP00000482078.1:p.Thr187ProfsTer4
NM_000179.2:c.3655_3658delinsCC , LRG_219t1:c.3655_3658delinsCC (MSH6)	NP_000170.1:p.Thr1219ProfsTer4
NM_001281492.1:c.3265_3268delinsCC (MSH6)	NP_001268421.1:p.Thr1089ProfsTer4
NM_001281493.1:c.2749_2752delinsCC (MSH6)	NP_001268422.1:p.Thr917ProfsTer4
NM_001281494.1:c.2749_2752delinsCC (MSH6)	NP_001268423.1:p.Thr917ProfsTer4
XM_005264271.1:c.3358_3361delinsCC (MSH6)	XP_005264328.1:p.Thr1120ProfsTer4
XM_011532798.1:c.3472_3475delinsCC (MSH6)	XP_011531100.1:p.Thr1158ProfsTer4
XM_011532799.1:c.3358_3361delinsCC (MSH6)	XP_011531101.1:p.Thr1120ProfsTer4
XM_011532800.1:c.3358_3361delinsCC (MSH6)	XP_011531102.1:p.Thr1120ProfsTer4
XM_024452819.1:c.3655_3658delinsCC (MSH6)	XP_024308587.1:p.Thr1219ProfsTer4
XM_024452820.1:c.3472_3475delinsCC (MSH6)	XP_024308588.1:p.Thr1158ProfsTer4
XM_024452821.1:c.3358_3361delinsCC (MSH6)	XP_024308589.1:p.Thr1120ProfsTer4
XM_024452822.1:c.2749_2752delinsCC (MSH6)	XP_024308590.1:p.Thr917ProfsTer4
NM_000179.3:c.3655_3658delinsCC (MSH6) MANE Select	NP_000170.1:p.Thr1219ProfsTer4
NM_001281492.2:c.3265_3268delinsCC (MSH6)	NP_001268421.1:p.Thr1089ProfsTer4
NM_001281493.2:c.2749_2752delinsCC (MSH6)	NP_001268422.1:p.Thr917ProfsTer4
NM_001281494.2:c.2749_2752delinsCC (MSH6)	NP_001268423.1:p.Thr917ProfsTer4