Canonical Allele Identifier: CA658655729

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 483852
• ClinVar RCV Id: RCV000576026 ; RCV000657249 ; RCV001853719 ; RCV003451257
• dbSNP Id: rs1553332733
• gnomAD v4: 2-47805681-A-AT
• MyVariant Identifiers: chr2:g.48032822dup (hg19) ; chr2:g.47805683dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805683dup , CM000664.2:g.47805683dup	GRCh38
NC_000002.11:g.48032822dup , CM000664.1:g.48032822dup	GRCh37
NC_000002.10:g.47886326dup	NCBI36
NG_007111.1:g.27537dup , LRG_219:g.27537dup
NG_008397.1:g.104994dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3325dup (MSH6)	ENSP00000406248.2:p.Ser1109PhefsTer7
ENST00000420813.6:c.3325dup (MSH6)	ENSP00000390382.2:p.Ser1109PhefsTer7
ENST00000455383.6:c.3325dup (MSH6)	ENSP00000397484.2:p.Ser1109PhefsTer7
ENST00000700004.2:c.3238dup (MSH6)	ENSP00000514752.2:p.Ser1080PhefsTer7
ENST00000699999.1:n.4296dup (MSH6)
ENST00000700000.1:c.2056dup (MSH6)	ENSP00000514749.1:p.Ser686PhefsTer7
ENST00000700002.1:c.3628dup (MSH6)	ENSP00000514750.1:p.Ser1210PhefsTer7
ENST00000700003.1:c.1077dup (MSH6)	ENSP00000514751.1:n.1077dup
ENST00000700004.1:c.2395dup (MSH6)	ENSP00000514752.1:p.Ser799PhefsTer7
ENST00000700005.1:n.2473dup (MSH6)
ENST00000700006.1:n.4284dup (MSH6)
ENST00000700007.1:n.2217dup (MSH6)
ENST00000700008.1:n.1791dup (MSH6)
ENST00000700009.1:n.1790dup (MSH6)
ENST00000700010.1:n.1031dup (MSH6)
ENST00000700011.1:n.2916dup (MSH6)
ENST00000234420.11:c.3622dup (MSH6) MANE Select	ENSP00000234420.5:p.Ser1208PhefsTer7
ENST00000540021.6:c.3232dup (MSH6)	ENSP00000446475.1:p.Ser1078PhefsTer7
ENST00000652107.1:c.3325dup (MSH6)	ENSP00000498629.1:p.Ser1109PhefsTer7
ENST00000673637.1:c.3325dup (MSH6)	ENSP00000501310.1:p.Ser1109PhefsTer7
ENST00000234420.9:c.3622dup (MSH6)	ENSP00000234420.4:p.Ser1208PhefsTer7
ENST00000405808.5:c.169+2513dup (FBXO11)	ENSP00000385127.1:n.169+2513dup
ENST00000434234.5:c.*124+2312dup (FBXO11)	ENSP00000402692.1:n.*124+2312dup
ENST00000445503.5:c.*2969dup (MSH6)	ENSP00000405294.1:n.*2969dup
ENST00000538136.1:c.2716dup (MSH6)	ENSP00000438580.1:p.Ser906PhefsTer7
ENST00000540021.5:c.3232dup (MSH6)	ENSP00000446475.1:p.Ser1078PhefsTer7
ENST00000614496.4:c.2716dup (MSH6)	ENSP00000477844.1:p.Ser906PhefsTer7
ENST00000622629.4:c.526dup (MSH6)	ENSP00000482078.1:p.Ser176PhefsTer7
NM_000179.2:c.3622dup , LRG_219t1:c.3622dup (MSH6)	NP_000170.1:p.Ser1208PhefsTer7
NM_001281492.1:c.3232dup (MSH6)	NP_001268421.1:p.Ser1078PhefsTer7
NM_001281493.1:c.2716dup (MSH6)	NP_001268422.1:p.Ser906PhefsTer7
NM_001281494.1:c.2716dup (MSH6)	NP_001268423.1:p.Ser906PhefsTer7
XM_005264271.1:c.3325dup (MSH6)	XP_005264328.1:p.Ser1109PhefsTer7
XM_011532798.1:c.3439dup (MSH6)	XP_011531100.1:p.Ser1147PhefsTer7
XM_011532799.1:c.3325dup (MSH6)	XP_011531101.1:p.Ser1109PhefsTer7
XM_011532800.1:c.3325dup (MSH6)	XP_011531102.1:p.Ser1109PhefsTer7
XM_024452819.1:c.3622dup (MSH6)	XP_024308587.1:p.Ser1208PhefsTer7
XM_024452820.1:c.3439dup (MSH6)	XP_024308588.1:p.Ser1147PhefsTer7
XM_024452821.1:c.3325dup (MSH6)	XP_024308589.1:p.Ser1109PhefsTer7
XM_024452822.1:c.2716dup (MSH6)	XP_024308590.1:p.Ser906PhefsTer7
NM_000179.3:c.3622dup (MSH6) MANE Select	NP_000170.1:p.Ser1208PhefsTer7
NM_001281492.2:c.3232dup (MSH6)	NP_001268421.1:p.Ser1078PhefsTer7
NM_001281493.2:c.2716dup (MSH6)	NP_001268422.1:p.Ser906PhefsTer7
NM_001281494.2:c.2716dup (MSH6)	NP_001268423.1:p.Ser906PhefsTer7