Canonical Allele Identifier: CA2580067284

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1733984
• ClinVar RCV Id: RCV002346745 ; RCV003454132

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806251_47806252dup , CM000664.2:g.47806251_47806252dup	GRCh38
NC_000002.11:g.48033390_48033391dup , CM000664.1:g.48033390_48033391dup	GRCh37
NC_000002.10:g.47886894_47886895dup	NCBI36
NG_007111.1:g.28105_28106dup , LRG_219:g.28105_28106dup
NG_008397.1:g.104425_104426dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3397_3398dup (MSH6)	ENSP00000406248.2:p.Lys1134LeufsTer8
ENST00000420813.6:c.3397_3398dup (MSH6)	ENSP00000390382.2:p.Lys1134LeufsTer8
ENST00000455383.6:c.3397_3398dup (MSH6)	ENSP00000397484.2:p.Lys1134LeufsTer8
ENST00000700004.2:c.3310_3311dup (MSH6)	ENSP00000514752.2:p.Lys1105LeufsTer8
ENST00000699999.1:n.4368_4369dup (MSH6)
ENST00000700000.1:c.2128_2129dup (MSH6)	ENSP00000514749.1:p.Lys711LeufsTer8
ENST00000700002.1:c.3700_3701dup (MSH6)	ENSP00000514750.1:p.Lys1235LeufsTer8
ENST00000700003.1:c.1149_1150dup (MSH6)	ENSP00000514751.1:n.1149_1150dup
ENST00000700004.1:c.2467_2468dup (MSH6)	ENSP00000514752.1:p.Lys824LeufsTer8
ENST00000700005.1:n.2545_2546dup (MSH6)
ENST00000700006.1:n.4852_4853dup (MSH6)
ENST00000700007.1:n.2289_2290dup (MSH6)
ENST00000700008.1:n.1863_1864dup (MSH6)
ENST00000700009.1:n.2358_2359dup (MSH6)
ENST00000700010.1:n.1103_1104dup (MSH6)
ENST00000700011.1:n.2988_2989dup (MSH6)
ENST00000682451.1:n.4497_4498dup (FBXO11)
ENST00000684712.1:n.4759_4760dup (FBXO11)
ENST00000234420.11:c.3694_3695dup (MSH6) MANE Select	ENSP00000234420.5:p.Lys1233LeufsTer8
ENST00000540021.6:c.3304_3305dup (MSH6)	ENSP00000446475.1:p.Lys1103LeufsTer8
ENST00000652107.1:c.3397_3398dup (MSH6)	ENSP00000498629.1:p.Lys1134LeufsTer8
ENST00000673637.1:c.3397_3398dup (MSH6)	ENSP00000501310.1:p.Lys1134LeufsTer8
ENST00000234420.9:c.3694_3695dup (MSH6)	ENSP00000234420.4:p.Lys1233LeufsTer8
ENST00000405808.5:c.169+1944_169+1945dup (FBXO11)	ENSP00000385127.1:n.169+1944_169+1945dup
ENST00000434234.5:c.*124+1743_*124+1744dup (FBXO11)	ENSP00000402692.1:n.*124+1743_*124+1744du...
ENST00000445503.5:c.*3041_*3042dup (MSH6)	ENSP00000405294.1:n.*3041_*3042dup
ENST00000538136.1:c.2788_2789dup (MSH6)	ENSP00000438580.1:p.Lys931LeufsTer8
ENST00000540021.5:c.3304_3305dup (MSH6)	ENSP00000446475.1:p.Lys1103LeufsTer8
ENST00000614496.4:c.2788_2789dup (MSH6)	ENSP00000477844.1:p.Lys931LeufsTer8
ENST00000622629.4:c.598_599dup (MSH6)	ENSP00000482078.1:p.Lys201LeufsTer8
NM_000179.2:c.3694_3695dup , LRG_219t1:c.3694_3695dup (MSH6)	NP_000170.1:p.Lys1233LeufsTer8
NM_001281492.1:c.3304_3305dup (MSH6)	NP_001268421.1:p.Lys1103LeufsTer8
NM_001281493.1:c.2788_2789dup (MSH6)	NP_001268422.1:p.Lys931LeufsTer8
NM_001281494.1:c.2788_2789dup (MSH6)	NP_001268423.1:p.Lys931LeufsTer8
XM_005264271.1:c.3397_3398dup (MSH6)	XP_005264328.1:p.Lys1134LeufsTer8
XM_011532798.1:c.3511_3512dup (MSH6)	XP_011531100.1:p.Lys1172LeufsTer8
XM_011532799.1:c.3397_3398dup (MSH6)	XP_011531101.1:p.Lys1134LeufsTer8
XM_011532800.1:c.3397_3398dup (MSH6)	XP_011531102.1:p.Lys1134LeufsTer8
XM_024452819.1:c.3694_3695dup (MSH6)	XP_024308587.1:p.Lys1233LeufsTer8
XM_024452820.1:c.3511_3512dup (MSH6)	XP_024308588.1:p.Lys1172LeufsTer8
XM_024452821.1:c.3397_3398dup (MSH6)	XP_024308589.1:p.Lys1134LeufsTer8
XM_024452822.1:c.2788_2789dup (MSH6)	XP_024308590.1:p.Lys931LeufsTer8
NM_000179.3:c.3694_3695dup (MSH6) MANE Select	NP_000170.1:p.Lys1233LeufsTer8
NM_001281492.2:c.3304_3305dup (MSH6)	NP_001268421.1:p.Lys1103LeufsTer8
NM_001281493.2:c.2788_2789dup (MSH6)	NP_001268422.1:p.Lys931LeufsTer8
NM_001281494.2:c.2788_2789dup (MSH6)	NP_001268423.1:p.Lys931LeufsTer8