Canonical Allele Identifier: CA330551

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89444
• ClinVar RCV Id: RCV000074912 ; RCV002513798
• dbSNP Id: rs1553332996
• MyVariant Identifiers: chr2:g.48033374_48033402dup29 (hg19) ; chr2:g.48033402_48033403insAATAGCAAATGCAGTTGTTAAAGAACTTG (hg19) ; chr2:g.47806235_47806263dup29 (hg38) ; chr2:g.47806263_47806264insAATAGCAAATGCAGTTGTTAAAGAACTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806235_47806263dup , CM000664.2:g.47806235_47806263dup	GRCh38
NC_000002.11:g.48033374_48033402dup , CM000664.1:g.48033374_48033402dup	GRCh37
NC_000002.10:g.47886878_47886906dup	NCBI36
NG_007111.1:g.28089_28117dup , LRG_219:g.28089_28117dup
NG_008397.1:g.104413_104441dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3381_3409dup (MSH6)	ENSP00000406248.2:p.Ala1137GlufsTer2
ENST00000420813.6:c.3381_3409dup (MSH6)	ENSP00000390382.2:p.Ala1137GlufsTer2
ENST00000455383.6:c.3381_3409dup (MSH6)	ENSP00000397484.2:p.Ala1137GlufsTer2
ENST00000700004.2:c.3294_3322dup (MSH6)	ENSP00000514752.2:p.Ala1108GlufsTer2
ENST00000699999.1:n.4352_4380dup (MSH6)
ENST00000700000.1:c.2112_2140dup (MSH6)	ENSP00000514749.1:p.Ala714GlufsTer2
ENST00000700002.1:c.3684_3712dup (MSH6)	ENSP00000514750.1:p.Ala1238GlufsTer2
ENST00000700003.1:c.1133_1161dup (MSH6)	ENSP00000514751.1:n.1133_1161dup
ENST00000700004.1:c.2451_2479dup (MSH6)	ENSP00000514752.1:p.Ala827GlufsTer2
ENST00000700005.1:n.2529_2557dup (MSH6)
ENST00000700006.1:n.4836_4864dup (MSH6)
ENST00000700007.1:n.2273_2301dup (MSH6)
ENST00000700008.1:n.1847_1875dup (MSH6)
ENST00000700009.1:n.2342_2370dup (MSH6)
ENST00000700010.1:n.1087_1115dup (MSH6)
ENST00000700011.1:n.2972_3000dup (MSH6)
ENST00000682451.1:n.4485_4513dup (FBXO11)
ENST00000684712.1:n.4747_4775dup (FBXO11)
ENST00000234420.11:c.3678_3706dup (MSH6) MANE Select	ENSP00000234420.5:p.Ala1236GlufsTer2
ENST00000540021.6:c.3288_3316dup (MSH6)	ENSP00000446475.1:p.Ala1106GlufsTer2
ENST00000652107.1:c.3381_3409dup (MSH6)	ENSP00000498629.1:p.Ala1137GlufsTer2
ENST00000673637.1:c.3381_3409dup (MSH6)	ENSP00000501310.1:p.Ala1137GlufsTer2
ENST00000234420.9:c.3678_3706dup (MSH6)	ENSP00000234420.4:p.Ala1236GlufsTer2
ENST00000405808.5:c.169+1932_169+1960dup (FBXO11)	ENSP00000385127.1:n.169+1932_169+1960dup
ENST00000434234.5:c.*124+1731_*124+1759dup (FBXO11)	ENSP00000402692.1:n.*124+1731_*124+1759du...
ENST00000445503.5:c.*3025_*3053dup (MSH6)	ENSP00000405294.1:n.*3025_*3053dup
ENST00000538136.1:c.2772_2800dup (MSH6)	ENSP00000438580.1:p.Ala934GlufsTer2
ENST00000540021.5:c.3288_3316dup (MSH6)	ENSP00000446475.1:p.Ala1106GlufsTer2
ENST00000614496.4:c.2772_2800dup (MSH6)	ENSP00000477844.1:p.Ala934GlufsTer2
ENST00000622629.4:c.582_610dup (MSH6)	ENSP00000482078.1:p.Ala204GlufsTer2
NM_000179.2:c.3678_3706dup , LRG_219t1:c.3678_3706dup (MSH6)	NP_000170.1:p.Ala1236GlufsTer2
NM_001281492.1:c.3288_3316dup (MSH6)	NP_001268421.1:p.Ala1106GlufsTer2
NM_001281493.1:c.2772_2800dup (MSH6)	NP_001268422.1:p.Ala934GlufsTer2
NM_001281494.1:c.2772_2800dup (MSH6)	NP_001268423.1:p.Ala934GlufsTer2
XM_005264271.1:c.3381_3409dup (MSH6)	XP_005264328.1:p.Ala1137GlufsTer2
XM_011532798.1:c.3495_3523dup (MSH6)	XP_011531100.1:p.Ala1175GlufsTer2
XM_011532799.1:c.3381_3409dup (MSH6)	XP_011531101.1:p.Ala1137GlufsTer2
XM_011532800.1:c.3381_3409dup (MSH6)	XP_011531102.1:p.Ala1137GlufsTer2
XM_024452819.1:c.3678_3706dup (MSH6)	XP_024308587.1:p.Ala1236GlufsTer2
XM_024452820.1:c.3495_3523dup (MSH6)	XP_024308588.1:p.Ala1175GlufsTer2
XM_024452821.1:c.3381_3409dup (MSH6)	XP_024308589.1:p.Ala1137GlufsTer2
XM_024452822.1:c.2772_2800dup (MSH6)	XP_024308590.1:p.Ala934GlufsTer2
NM_000179.3:c.3678_3706dup (MSH6) MANE Select	NP_000170.1:p.Ala1236GlufsTer2
NM_001281492.2:c.3288_3316dup (MSH6)	NP_001268421.1:p.Ala1106GlufsTer2
NM_001281493.2:c.2772_2800dup (MSH6)	NP_001268422.1:p.Ala934GlufsTer2
NM_001281494.2:c.2772_2800dup (MSH6)	NP_001268423.1:p.Ala934GlufsTer2