Canonical Allele Identifier: CA658655734

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 455277
• ClinVar RCV Id: RCV000560496 ; RCV000573138 ; RCV003449511
• dbSNP Id: rs1553333017
• MyVariant Identifiers: chr2:g.48033392dup (hg19) ; chr2:g.47806253dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806253dup , CM000664.2:g.47806253dup	GRCh38
NC_000002.11:g.48033392dup , CM000664.1:g.48033392dup	GRCh37
NC_000002.10:g.47886896dup	NCBI36
NG_007111.1:g.28107dup , LRG_219:g.28107dup
NG_008397.1:g.104424dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3399dup (MSH6)	ENSP00000406248.2:p.Lys1134Ter
ENST00000420813.6:c.3399dup (MSH6)	ENSP00000390382.2:p.Lys1134Ter
ENST00000455383.6:c.3399dup (MSH6)	ENSP00000397484.2:p.Lys1134Ter
ENST00000700004.2:c.3312dup (MSH6)	ENSP00000514752.2:p.Lys1105Ter
ENST00000699999.1:n.4370dup (MSH6)
ENST00000700000.1:c.2130dup (MSH6)	ENSP00000514749.1:p.Lys711Ter
ENST00000700002.1:c.3702dup (MSH6)	ENSP00000514750.1:p.Lys1235Ter
ENST00000700003.1:c.1151dup (MSH6)	ENSP00000514751.1:n.1151dup
ENST00000700004.1:c.2469dup (MSH6)	ENSP00000514752.1:p.Lys824Ter
ENST00000700005.1:n.2547dup (MSH6)
ENST00000700006.1:n.4854dup (MSH6)
ENST00000700007.1:n.2291dup (MSH6)
ENST00000700008.1:n.1865dup (MSH6)
ENST00000700009.1:n.2360dup (MSH6)
ENST00000700010.1:n.1105dup (MSH6)
ENST00000700011.1:n.2990dup (MSH6)
ENST00000682451.1:n.4496dup (FBXO11)
ENST00000684712.1:n.4758dup (FBXO11)
ENST00000234420.11:c.3696dup (MSH6) MANE Select	ENSP00000234420.5:p.Lys1233Ter
ENST00000540021.6:c.3306dup (MSH6)	ENSP00000446475.1:p.Lys1103Ter
ENST00000652107.1:c.3399dup (MSH6)	ENSP00000498629.1:p.Lys1134Ter
ENST00000673637.1:c.3399dup (MSH6)	ENSP00000501310.1:p.Lys1134Ter
ENST00000234420.9:c.3696dup (MSH6)	ENSP00000234420.4:p.Lys1233Ter
ENST00000405808.5:c.169+1943dup (FBXO11)	ENSP00000385127.1:n.169+1943dup
ENST00000434234.5:c.*124+1742dup (FBXO11)	ENSP00000402692.1:n.*124+1742dup
ENST00000445503.5:c.*3043dup (MSH6)	ENSP00000405294.1:n.*3043dup
ENST00000538136.1:c.2790dup (MSH6)	ENSP00000438580.1:p.Lys931Ter
ENST00000540021.5:c.3306dup (MSH6)	ENSP00000446475.1:p.Lys1103Ter
ENST00000614496.4:c.2790dup (MSH6)	ENSP00000477844.1:p.Lys931Ter
ENST00000622629.4:c.600dup (MSH6)	ENSP00000482078.1:p.Lys201Ter
NM_000179.2:c.3696dup , LRG_219t1:c.3696dup (MSH6)	NP_000170.1:p.Lys1233Ter
NM_001281492.1:c.3306dup (MSH6)	NP_001268421.1:p.Lys1103Ter
NM_001281493.1:c.2790dup (MSH6)	NP_001268422.1:p.Lys931Ter
NM_001281494.1:c.2790dup (MSH6)	NP_001268423.1:p.Lys931Ter
XM_005264271.1:c.3399dup (MSH6)	XP_005264328.1:p.Lys1134Ter
XM_011532798.1:c.3513dup (MSH6)	XP_011531100.1:p.Lys1172Ter
XM_011532799.1:c.3399dup (MSH6)	XP_011531101.1:p.Lys1134Ter
XM_011532800.1:c.3399dup (MSH6)	XP_011531102.1:p.Lys1134Ter
XM_024452819.1:c.3696dup (MSH6)	XP_024308587.1:p.Lys1233Ter
XM_024452820.1:c.3513dup (MSH6)	XP_024308588.1:p.Lys1172Ter
XM_024452821.1:c.3399dup (MSH6)	XP_024308589.1:p.Lys1134Ter
XM_024452822.1:c.2790dup (MSH6)	XP_024308590.1:p.Lys931Ter
NM_000179.3:c.3696dup (MSH6) MANE Select	NP_000170.1:p.Lys1233Ter
NM_001281492.2:c.3306dup (MSH6)	NP_001268421.1:p.Lys1103Ter
NM_001281493.2:c.2790dup (MSH6)	NP_001268422.1:p.Lys931Ter
NM_001281494.2:c.2790dup (MSH6)	NP_001268423.1:p.Lys931Ter