Canonical Allele Identifier: CA645369245

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 428314
• ClinVar RCV Id: RCV000491692 ; RCV003449295
• dbSNP Id: rs1114167708
• MyVariant Identifiers: chr2:g.48025965_48025969dup (hg19) ; chr2:g.47798826_47798830dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798826_47798830dup , CM000664.2:g.47798826_47798830dup	GRCh38
NC_000002.11:g.48025965_48025969dup , CM000664.1:g.48025965_48025969dup	GRCh37
NC_000002.10:g.47879469_47879473dup	NCBI36
NG_007111.1:g.20680_20684dup , LRG_219:g.20680_20684dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.546_550dup (MSH6)	ENSP00000406248.2:p.Gly184GlufsTer10
ENST00000420813.6:c.546_550dup (MSH6)	ENSP00000390382.2:p.Gly184GlufsTer10
ENST00000455383.6:c.546_550dup (MSH6)	ENSP00000397484.2:p.Gly184GlufsTer10
ENST00000700004.2:c.843_847dup (MSH6)	ENSP00000514752.2:p.Gly283GlufsTer10
ENST00000699999.1:n.927_931dup (MSH6)
ENST00000700000.1:c.843_847dup (MSH6)	ENSP00000514749.1:p.Gly283GlufsTer10
ENST00000700002.1:c.849_853dup (MSH6)	ENSP00000514750.1:p.Gly285GlufsTer10
ENST00000700003.1:c.627+2763_627+2767dup (MSH6)	ENSP00000514751.1:n.627+2763_627+2767dup
ENST00000234420.11:c.843_847dup (MSH6) MANE Select	ENSP00000234420.5:p.Gly283GlufsTer10
ENST00000540021.6:c.453_457dup (MSH6)	ENSP00000446475.1:p.Gly153GlufsTer10
ENST00000652107.1:c.546_550dup (MSH6)	ENSP00000498629.1:p.Gly184GlufsTer10
ENST00000673637.1:c.546_550dup (MSH6)	ENSP00000501310.1:p.Gly184GlufsTer10
ENST00000673922.1:n.565_569dup (MSH6)
ENST00000234420.9:c.843_847dup (MSH6)	ENSP00000234420.4:p.Gly283GlufsTer10
ENST00000405808.5:c.169+9370_169+9374dup (FBXO11)	ENSP00000385127.1:n.169+9370_169+9374dup
ENST00000434234.5:c.*124+9169_*124+9173dup (FBXO11)	ENSP00000402692.1:n.*124+9169_*124+9173dup
ENST00000445503.5:c.*190_*194dup (MSH6)	ENSP00000405294.1:n.*190_*194dup
ENST00000456246.1:c.*331_*335dup (MSH6)	ENSP00000410570.1:n.*331_*335dup
ENST00000538136.1:c.-64_-60dup (MSH6)	ENSP00000438580.1:n.-64_-60dup
ENST00000540021.5:c.453_457dup (MSH6)	ENSP00000446475.1:p.Gly153GlufsTer10
ENST00000614496.4:c.-64_-60dup (MSH6)	ENSP00000477844.1:n.-64_-60dup
ENST00000616033.4:c.840_844dup (MSH6)	ENSP00000480261.1:p.Gly282GlufsTer10
ENST00000622629.4:c.-2254_-2250dup (MSH6)	ENSP00000482078.1:n.-2254_-2250dup
NM_000179.2:c.843_847dup , LRG_219t1:c.843_847dup (MSH6)	NP_000170.1:p.Gly283GlufsTer10
NM_001281492.1:c.453_457dup (MSH6)	NP_001268421.1:p.Gly153GlufsTer10
NM_001281493.1:c.-64_-60dup (MSH6)	NP_001268422.1:n.-64_-60dup
NM_001281494.1:c.-64_-60dup (MSH6)	NP_001268423.1:n.-64_-60dup
XM_005264271.1:c.546_550dup (MSH6)	XP_005264328.1:p.Gly184GlufsTer10
XM_011532798.1:c.660_664dup (MSH6)	XP_011531100.1:p.Gly222GlufsTer10
XM_011532799.1:c.546_550dup (MSH6)	XP_011531101.1:p.Gly184GlufsTer10
XM_011532800.1:c.546_550dup (MSH6)	XP_011531102.1:p.Gly184GlufsTer10
XM_024452819.1:c.843_847dup (MSH6)	XP_024308587.1:p.Gly283GlufsTer10
XM_024452820.1:c.660_664dup (MSH6)	XP_024308588.1:p.Gly222GlufsTer10
XM_024452821.1:c.546_550dup (MSH6)	XP_024308589.1:p.Gly184GlufsTer10
XM_024452822.1:c.-64_-60dup (MSH6)	XP_024308590.1:n.-64_-60dup
NM_000179.3:c.843_847dup (MSH6) MANE Select	NP_000170.1:p.Gly283GlufsTer10
NM_001281492.2:c.453_457dup (MSH6)	NP_001268421.1:p.Gly153GlufsTer10
NM_001281493.2:c.-64_-60dup (MSH6)	NP_001268422.1:n.-64_-60dup
NM_001281494.2:c.-64_-60dup (MSH6)	NP_001268423.1:n.-64_-60dup