Canonical Allele Identifier: CA2580067293

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1734165
• ClinVar RCV Id: RCV002348985

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806266_47806267insC , CM000664.2:g.47806266_47806267insC	GRCh38
NC_000002.11:g.48033405_48033406insC , CM000664.1:g.48033405_48033406insC	GRCh37
NC_000002.10:g.47886909_47886910insC	NCBI36
NG_007111.1:g.28120_28121insC , LRG_219:g.28120_28121insC
NG_008397.1:g.104409_104410insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3412_3413insC (MSH6)	ENSP00000406248.2:p.Glu1138AlafsTer?
ENST00000420813.6:c.3412_3413insC (MSH6)	ENSP00000390382.2:p.Glu1138AlafsTer?
ENST00000455383.6:c.3412_3413insC (MSH6)	ENSP00000397484.2:p.Glu1138AlafsTer?
ENST00000700004.2:c.3325_3326insC (MSH6)	ENSP00000514752.2:p.Glu1109AlafsTer?
ENST00000699999.1:n.4383_4384insC (MSH6)
ENST00000700000.1:c.2143_2144insC (MSH6)	ENSP00000514749.1:p.Glu715AlafsTer?
ENST00000700002.1:c.3715_3716insC (MSH6)	ENSP00000514750.1:p.Glu1239AlafsTer?
ENST00000700003.1:c.1164_1165insC (MSH6)	ENSP00000514751.1:n.1164_1165insC
ENST00000700004.1:c.2482_2483insC (MSH6)	ENSP00000514752.1:p.Glu828AlafsTer?
ENST00000700005.1:n.2560_2561insC (MSH6)
ENST00000700006.1:n.4867_4868insC (MSH6)
ENST00000700007.1:n.2304_2305insC (MSH6)
ENST00000700008.1:n.1878_1879insC (MSH6)
ENST00000700009.1:n.2373_2374insC (MSH6)
ENST00000700010.1:n.1118_1119insC (MSH6)
ENST00000700011.1:n.3003_3004insC (MSH6)
ENST00000682451.1:n.4481_4482insG (FBXO11)
ENST00000684712.1:n.4743_4744insG (FBXO11)
ENST00000234420.11:c.3709_3710insC (MSH6) MANE Select	ENSP00000234420.5:p.Glu1237AlafsTer?
ENST00000540021.6:c.3319_3320insC (MSH6)	ENSP00000446475.1:p.Glu1107AlafsTer?
ENST00000652107.1:c.3412_3413insC (MSH6)	ENSP00000498629.1:p.Glu1138AlafsTer?
ENST00000673637.1:c.3412_3413insC (MSH6)	ENSP00000501310.1:p.Glu1138AlafsTer?
ENST00000234420.9:c.3709_3710insC (MSH6)	ENSP00000234420.4:p.Glu1237AlafsTer?
ENST00000405808.5:c.169+1928_169+1929insG (FBXO11)	ENSP00000385127.1:n.169+1928_169+1929insG
ENST00000434234.5:c.*124+1727_*124+1728insG (FBXO11)	ENSP00000402692.1:n.*124+1727_*124+1728insG
ENST00000445503.5:c.*3056_*3057insC (MSH6)	ENSP00000405294.1:n.*3056_*3057insC
ENST00000538136.1:c.2803_2804insC (MSH6)	ENSP00000438580.1:p.Glu935AlafsTer?
ENST00000540021.5:c.3319_3320insC (MSH6)	ENSP00000446475.1:p.Glu1107AlafsTer?
ENST00000614496.4:c.2803_2804insC (MSH6)	ENSP00000477844.1:p.Glu935AlafsTer?
ENST00000622629.4:c.613_614insC (MSH6)	ENSP00000482078.1:p.Glu205AlafsTer16
NM_000179.2:c.3709_3710insC , LRG_219t1:c.3709_3710insC (MSH6)	NP_000170.1:p.Glu1237AlafsTer?
NM_001281492.1:c.3319_3320insC (MSH6)	NP_001268421.1:p.Glu1107AlafsTer?
NM_001281493.1:c.2803_2804insC (MSH6)	NP_001268422.1:p.Glu935AlafsTer?
NM_001281494.1:c.2803_2804insC (MSH6)	NP_001268423.1:p.Glu935AlafsTer?
XM_005264271.1:c.3412_3413insC (MSH6)	XP_005264328.1:p.Glu1138AlafsTer?
XM_011532798.1:c.3526_3527insC (MSH6)	XP_011531100.1:p.Glu1176AlafsTer?
XM_011532799.1:c.3412_3413insC (MSH6)	XP_011531101.1:p.Glu1138AlafsTer?
XM_011532800.1:c.3412_3413insC (MSH6)	XP_011531102.1:p.Glu1138AlafsTer?
XM_024452819.1:c.3709_3710insC (MSH6)	XP_024308587.1:p.Glu1237AlafsTer?
XM_024452820.1:c.3526_3527insC (MSH6)	XP_024308588.1:p.Glu1176AlafsTer?
XM_024452821.1:c.3412_3413insC (MSH6)	XP_024308589.1:p.Glu1138AlafsTer?
XM_024452822.1:c.2803_2804insC (MSH6)	XP_024308590.1:p.Glu935AlafsTer?
NM_000179.3:c.3709_3710insC (MSH6) MANE Select	NP_000170.1:p.Glu1237AlafsTer?
NM_001281492.2:c.3319_3320insC (MSH6)	NP_001268421.1:p.Glu1107AlafsTer?
NM_001281493.2:c.2803_2804insC (MSH6)	NP_001268422.1:p.Glu935AlafsTer?
NM_001281494.2:c.2803_2804insC (MSH6)	NP_001268423.1:p.Glu935AlafsTer?