Canonical Allele Identifier: CA658655789

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 479942
• ClinVar RCV Id: RCV000565428
• dbSNP Id: rs1553334089
• gnomAD v4: 2-47806844-T-TGATTAAGGAATTATAGA
• MyVariant Identifiers: chr2:g.48033984_48034000dup (hg19) ; chr2:g.47806845_47806861dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806845_47806861dup , CM000664.2:g.47806845_47806861dup	GRCh38
NC_000002.11:g.48033984_48034000dup , CM000664.1:g.48033984_48034000dup	GRCh37
NC_000002.10:g.47887488_47887504dup	NCBI36
NG_007111.1:g.28699_28715dup , LRG_219:g.28699_28715dup
NG_008397.1:g.103815_103831dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3771_*1dup (MSH6)	ENSP00000406248.2:n.3771_*1dup
ENST00000420813.6:c.3771_*1dup (MSH6)	ENSP00000390382.2:n.3771_*1dup
ENST00000455383.6:c.3771_*1dup (MSH6)	ENSP00000397484.2:n.3771_*1dup
ENST00000700004.2:c.3684_*1dup (MSH6)	ENSP00000514752.2:n.3684_*1dup
ENST00000699999.1:n.4742_4758dup (MSH6)
ENST00000700000.1:c.2502_*1dup (MSH6)	ENSP00000514749.1:n.2502_*1dup
ENST00000700002.1:c.4074_*1dup (MSH6)	ENSP00000514750.1:n.4074_*1dup
ENST00000700003.1:c.1523_1539dup (MSH6)	ENSP00000514751.1:n.1523_1539dup
ENST00000700004.1:c.2841_2857dup (MSH6)	ENSP00000514752.1:n.2841_2857dup
ENST00000700005.1:n.3046_3062dup (MSH6)
ENST00000700007.1:n.2663_2679dup (MSH6)
ENST00000700008.1:n.2330_2346dup (MSH6)
ENST00000700009.1:n.2732_2748dup (MSH6)
ENST00000700010.1:n.1477_1493dup (MSH6)
ENST00000700011.1:n.3362_3378dup (MSH6)
ENST00000682451.1:n.3887_3903dup (FBXO11)
ENST00000684712.1:n.4149_4165dup (FBXO11)
ENST00000234420.11:c.4068_*1dup (MSH6) MANE Select	ENSP00000234420.5:n.4068_*1dup
ENST00000540021.6:c.3678_*1dup (MSH6)	ENSP00000446475.1:n.3678_*1dup
ENST00000652107.1:c.3771_*1dup (MSH6)	ENSP00000498629.1:n.3771_*1dup
ENST00000673637.1:c.3771_*1dup (MSH6)	ENSP00000501310.1:n.3771_*1dup
ENST00000234420.9:c.4068_*1dup (MSH6)	ENSP00000234420.4:n.4068_*1dup
ENST00000405808.5:c.169+1334_169+1350dup (FBXO11)	ENSP00000385127.1:n.169+1334_169+1350dup
ENST00000434234.5:c.*124+1133_*124+1149dup (FBXO11)	ENSP00000402692.1:n.*124+1133_*124+1149du...
ENST00000445503.5:c.*3415_*3431dup (MSH6)	ENSP00000405294.1:n.*3415_*3431dup
ENST00000465204.5:n.3049_3065dup (FBXO11)
ENST00000538136.1:c.3162_*1dup (MSH6)	ENSP00000438580.1:n.3162_*1dup
ENST00000540021.5:c.3678_*1dup (MSH6)	ENSP00000446475.1:n.3678_*1dup
ENST00000614496.4:c.3162_*1dup (MSH6)	ENSP00000477844.1:n.3162_*1dup
ENST00000622629.4:c.969_*1dup (MSH6)	ENSP00000482078.1:n.969_*1dup
NM_000179.2:c.4068_*1dup , LRG_219t1:c.4068_*1dup (MSH6)	NP_000170.1:n.4068_*1dup
NM_001281492.1:c.3678_*1dup (MSH6)	NP_001268421.1:n.3678_*1dup
NM_001281493.1:c.3162_*1dup (MSH6)	NP_001268422.1:n.3162_*1dup
NM_001281494.1:c.3162_*1dup (MSH6)	NP_001268423.1:n.3162_*1dup
XM_005264271.1:c.3771_*1dup (MSH6)	XP_005264328.1:n.3771_*1dup
XM_011532798.1:c.3885_*1dup (MSH6)	XP_011531100.1:n.3885_*1dup
XM_011532799.1:c.3771_*1dup (MSH6)	XP_011531101.1:n.3771_*1dup
XM_011532800.1:c.3771_*1dup (MSH6)	XP_011531102.1:n.3771_*1dup
XM_024452819.1:c.4161_*1dup (MSH6)	XP_024308587.1:n.4161_*1dup
XM_024452820.1:c.3978_*1dup (MSH6)	XP_024308588.1:n.3978_*1dup
XM_024452821.1:c.3864_*1dup (MSH6)	XP_024308589.1:n.3864_*1dup
XM_024452822.1:c.3255_*1dup (MSH6)	XP_024308590.1:n.3255_*1dup
NM_000179.3:c.4068_*1dup (MSH6) MANE Select	NP_000170.1:n.4068_*1dup
NM_001281492.2:c.3678_*1dup (MSH6)	NP_001268421.1:n.3678_*1dup
NM_001281493.2:c.3162_*1dup (MSH6)	NP_001268422.1:n.3162_*1dup
NM_001281494.2:c.3162_*1dup (MSH6)	NP_001268423.1:n.3162_*1dup