Canonical Allele Identifier: CA1649523

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 495703
• ClinVar RCV Id: RCV000589351 ; RCV002255466 ; RCV001461599 ; RCV003320712 ; RCV003459455
• dbSNP Id: rs777409019
• ExAC: 2:48034047 A / ATTCAGACAACATTATGATCT
• gnomAD v2: 2-48034047-A-ATTCAGACAACATTATGATCT
• gnomAD v3: 2-47806908-A-ATTCAGACAACATTATGATCT
• gnomAD v4: 2-47806908-A-ATTCAGACAACATTATGATCT
• MyVariant Identifiers: chr2:g.48034048_48034067dup (hg19) ; chr2:g.48034047_48034048insTTCAGACAACATTATGATCT (hg19) ; chr2:g.47806909_47806928dup (hg38) ; chr2:g.47806908_47806909insTTCAGACAACATTATGATCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806909_47806928dup , CM000664.2:g.47806909_47806928dup	GRCh38
NC_000002.11:g.48034048_48034067dup , CM000664.1:g.48034048_48034067dup	GRCh37
NC_000002.10:g.47887552_47887571dup	NCBI36
NG_007111.1:g.28763_28782dup , LRG_219:g.28763_28782dup
NG_008397.1:g.103748_103767dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.*49_*68dup (MSH6)	ENSP00000406248.2:n.*49_*68dup
ENST00000420813.6:c.*49_*68dup (MSH6)	ENSP00000390382.2:n.*49_*68dup
ENST00000455383.6:c.*49_*68dup (MSH6)	ENSP00000397484.2:n.*49_*68dup
ENST00000700002.1:c.*49_*68dup (MSH6)	ENSP00000514750.1:n.*49_*68dup
ENST00000700007.1:n.2727_2746dup (MSH6)
ENST00000682451.1:n.3820_3839dup (FBXO11)
ENST00000684712.1:n.4082_4101dup (FBXO11)
ENST00000234420.11:c.*49_*68dup (MSH6) MANE Select	ENSP00000234420.5:n.*49_*68dup
ENST00000540021.6:c.*49_*68dup (MSH6)	ENSP00000446475.1:n.*49_*68dup
ENST00000652107.1:c.*49_*68dup (MSH6)	ENSP00000498629.1:n.*49_*68dup
ENST00000234420.9:c.*49_*68dup (MSH6)	ENSP00000234420.4:n.*49_*68dup
ENST00000405808.5:c.169+1267_169+1286dup (FBXO11)	ENSP00000385127.1:n.169+1267_169+1286dup
ENST00000434234.5:c.*124+1066_*124+1085dup (FBXO11)	ENSP00000402692.1:n.*124+1066_*124+1085dup
ENST00000445503.5:c.*3479_*3498dup (MSH6)	ENSP00000405294.1:n.*3479_*3498dup
ENST00000465204.5:n.2982_3001dup (FBXO11)
ENST00000538136.1:c.*49_*68dup (MSH6)	ENSP00000438580.1:n.*49_*68dup
ENST00000540021.5:c.*49_*68dup (MSH6)	ENSP00000446475.1:n.*49_*68dup
ENST00000614496.4:c.*49_*68dup (MSH6)	ENSP00000477844.1:n.*49_*68dup
ENST00000622629.4:c.*49_*68dup (MSH6)	ENSP00000482078.1:n.*49_*68dup
NM_000179.2:c.*49_*68dup , LRG_219t1:c.*49_*68dup (MSH6)	NP_000170.1:n.*49_*68dup
NM_001281492.1:c.*49_*68dup (MSH6)	NP_001268421.1:n.*49_*68dup
NM_001281493.1:c.*49_*68dup (MSH6)	NP_001268422.1:n.*49_*68dup
NM_001281494.1:c.*49_*68dup (MSH6)	NP_001268423.1:n.*49_*68dup
XM_005264271.1:c.*49_*68dup (MSH6)	XP_005264328.1:n.*49_*68dup
XM_011532798.1:c.*49_*68dup (MSH6)	XP_011531100.1:n.*49_*68dup
XM_011532799.1:c.*49_*68dup (MSH6)	XP_011531101.1:n.*49_*68dup
XM_011532800.1:c.*49_*68dup (MSH6)	XP_011531102.1:n.*49_*68dup
XM_024452819.1:c.*49_*68dup (MSH6)	XP_024308587.1:n.*49_*68dup
XM_024452820.1:c.*49_*68dup (MSH6)	XP_024308588.1:n.*49_*68dup
XM_024452821.1:c.*49_*68dup (MSH6)	XP_024308589.1:n.*49_*68dup
XM_024452822.1:c.*49_*68dup (MSH6)	XP_024308590.1:n.*49_*68dup
NM_000179.3:c.*49_*68dup (MSH6) MANE Select	NP_000170.1:n.*49_*68dup
NM_001281492.2:c.*49_*68dup (MSH6)	NP_001268421.1:n.*49_*68dup
NM_001281493.2:c.*49_*68dup (MSH6)	NP_001268422.1:n.*49_*68dup
NM_001281494.2:c.*49_*68dup (MSH6)	NP_001268423.1:n.*49_*68dup