Canonical Allele Identifier: CA210376

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89467
• ClinVar RCV Id: RCV000074935 ; RCV000201998 ; RCV001668178
• dbSNP Id: rs34154602
• ExAC: 2:48033546 C / CT
• gnomAD v2: 2-48033546-C-CT
• gnomAD v3: 2-47806407-C-CT
• gnomAD v4: 2-47806407-C-CT
• MyVariant Identifiers: chr2:g.48033548dupT (hg19) ; chr2:g.48033548_48033549insT (hg19) ; chr2:g.48033546_48033547insT (hg19) ; chr2:g.47806409dupT (hg38) ; chr2:g.47806409_47806410insT (hg38) ; chr2:g.47806407_47806408insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806409dup , CM000664.2:g.47806409dup	GRCh38
NC_000002.11:g.48033548dup , CM000664.1:g.48033548dup	GRCh37
NC_000002.10:g.47887052dup	NCBI36
NG_007111.1:g.28263dup , LRG_219:g.28263dup
NG_008397.1:g.104268dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3505-43dup (MSH6)	ENSP00000406248.2:n.3505-43dup
ENST00000420813.6:c.3505-43dup (MSH6)	ENSP00000390382.2:n.3505-43dup
ENST00000455383.6:c.3505-43dup (MSH6)	ENSP00000397484.2:n.3505-43dup
ENST00000700004.2:c.3418-43dup (MSH6)	ENSP00000514752.2:n.3418-43dup
ENST00000699999.1:n.4476-43dup (MSH6)
ENST00000700000.1:c.2236-43dup (MSH6)	ENSP00000514749.1:n.2236-43dup
ENST00000700002.1:c.3808-43dup (MSH6)	ENSP00000514750.1:n.3808-43dup
ENST00000700003.1:c.1257-43dup (MSH6)	ENSP00000514751.1:n.1257-43dup
ENST00000700004.1:c.2575-43dup (MSH6)	ENSP00000514752.1:n.2575-43dup
ENST00000700005.1:n.2653-43dup (MSH6)
ENST00000700006.1:n.4960-43dup (MSH6)
ENST00000700007.1:n.2397-43dup (MSH6)
ENST00000700008.1:n.2021dup (MSH6)
ENST00000700009.1:n.2466-43dup (MSH6)
ENST00000700010.1:n.1211-43dup (MSH6)
ENST00000700011.1:n.3096-43dup (MSH6)
ENST00000682451.1:n.4340dup (FBXO11)
ENST00000684712.1:n.4602dup (FBXO11)
ENST00000234420.11:c.3802-43dup (MSH6) MANE Select	ENSP00000234420.5:n.3802-43dup
ENST00000540021.6:c.3412-43dup (MSH6)	ENSP00000446475.1:n.3412-43dup
ENST00000652107.1:c.3505-43dup (MSH6)	ENSP00000498629.1:n.3505-43dup
ENST00000673637.1:c.3505-43dup (MSH6)	ENSP00000501310.1:n.3505-43dup
ENST00000234420.9:c.3802-43dup (MSH6)	ENSP00000234420.4:n.3802-43dup
ENST00000405808.5:c.169+1787dup (FBXO11)	ENSP00000385127.1:n.169+1787dup
ENST00000434234.5:c.*124+1586dup (FBXO11)	ENSP00000402692.1:n.*124+1586dup
ENST00000445503.5:c.*3149-43dup (MSH6)	ENSP00000405294.1:n.*3149-43dup
ENST00000538136.1:c.2896-43dup (MSH6)	ENSP00000438580.1:n.2896-43dup
ENST00000540021.5:c.3412-43dup (MSH6)	ENSP00000446475.1:n.3412-43dup
ENST00000614496.4:c.2896-43dup (MSH6)	ENSP00000477844.1:n.2896-43dup
ENST00000622629.4:c.703-43dup (MSH6)	ENSP00000482078.1:n.703-43dup
NM_000179.2:c.3802-43dup , LRG_219t1:c.3802-43dup (MSH6)	NP_000170.1:n.3802-43dup
NM_001281492.1:c.3412-43dup (MSH6)	NP_001268421.1:n.3412-43dup
NM_001281493.1:c.2896-43dup (MSH6)	NP_001268422.1:n.2896-43dup
NM_001281494.1:c.2896-43dup (MSH6)	NP_001268423.1:n.2896-43dup
XM_005264271.1:c.3505-43dup (MSH6)	XP_005264328.1:n.3505-43dup
XM_011532798.1:c.3619-43dup (MSH6)	XP_011531100.1:n.3619-43dup
XM_011532799.1:c.3505-43dup (MSH6)	XP_011531101.1:n.3505-43dup
XM_011532800.1:c.3505-43dup (MSH6)	XP_011531102.1:n.3505-43dup
XM_024452819.1:c.3852dup (MSH6)	XP_024308587.1:p.Leu1285SerfsTer14
XM_024452820.1:c.3669dup (MSH6)	XP_024308588.1:p.Leu1224SerfsTer14
XM_024452821.1:c.3555dup (MSH6)	XP_024308589.1:p.Leu1186SerfsTer14
XM_024452822.1:c.2946dup (MSH6)	XP_024308590.1:p.Leu983SerfsTer14
NM_000179.3:c.3802-43dup (MSH6) MANE Select	NP_000170.1:n.3802-43dup
NM_001281492.2:c.3412-43dup (MSH6)	NP_001268421.1:n.3412-43dup
NM_001281493.2:c.2896-43dup (MSH6)	NP_001268422.1:n.2896-43dup
NM_001281494.2:c.2896-43dup (MSH6)	NP_001268423.1:n.2896-43dup