Canonical Allele Identifier: CA2695200647

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673785
• ClinVar RCV Id: RCV003450422

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803436_47803439dup , CM000664.2:g.47803436_47803439dup	GRCh38
NC_000002.11:g.48030575_48030578dup , CM000664.1:g.48030575_48030578dup	GRCh37
NC_000002.10:g.47884079_47884082dup	NCBI36
NG_007111.1:g.25290_25293dup , LRG_219:g.25290_25293dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2892_2895dup (MSH6)	ENSP00000406248.2:p.Asn966GlyfsTer2
ENST00000420813.6:c.2892_2895dup (MSH6)	ENSP00000390382.2:p.Asn966GlyfsTer2
ENST00000455383.6:c.2892_2895dup (MSH6)	ENSP00000397484.2:p.Asn966GlyfsTer2
ENST00000700004.2:c.3173-2182_3173-2179dup (MSH6)	ENSP00000514752.2:n.3173-2182_3173-2179dup
ENST00000699999.1:n.3273_3276dup (MSH6)
ENST00000700000.1:c.1623_1626dup (MSH6)	ENSP00000514749.1:p.Asn543GlyfsTer2
ENST00000700002.1:c.3195_3198dup (MSH6)	ENSP00000514750.1:p.Asn1067GlyfsTer2
ENST00000700003.1:c.644_647dup (MSH6)	ENSP00000514751.1:p.Thr217AlafsTer?
ENST00000700004.1:c.2330-2182_2330-2179dup (MSH6)	ENSP00000514752.1:n.2330-2182_2330-2179dup
ENST00000700005.1:n.2040_2043dup (MSH6)
ENST00000700006.1:n.2037_2040dup (MSH6)
ENST00000700007.1:n.1194_1197dup (MSH6)
ENST00000700008.1:n.768_771dup (MSH6)
ENST00000700009.1:n.767_770dup (MSH6)
ENST00000700010.1:n.598_601dup (MSH6)
ENST00000700011.1:n.669_672dup (MSH6)
ENST00000234420.11:c.3189_3192dup (MSH6) MANE Select	ENSP00000234420.5:p.Asn1065GlyfsTer2
ENST00000540021.6:c.2799_2802dup (MSH6)	ENSP00000446475.1:p.Asn935GlyfsTer2
ENST00000652107.1:c.2892_2895dup (MSH6)	ENSP00000498629.1:p.Asn966GlyfsTer2
ENST00000673637.1:c.2892_2895dup (MSH6)	ENSP00000501310.1:p.Asn966GlyfsTer2
ENST00000234420.9:c.3189_3192dup (MSH6)	ENSP00000234420.4:p.Asn1065GlyfsTer2
ENST00000405808.5:c.169+4758_169+4761dup (FBXO11)	ENSP00000385127.1:n.169+4758_169+4761dup
ENST00000434234.5:c.*124+4557_*124+4560dup (FBXO11)	ENSP00000402692.1:n.*124+4557_*124+4560dup
ENST00000445503.5:c.*2536_*2539dup (MSH6)	ENSP00000405294.1:n.*2536_*2539dup
ENST00000538136.1:c.2283_2286dup (MSH6)	ENSP00000438580.1:p.Asn763GlyfsTer2
ENST00000540021.5:c.2799_2802dup (MSH6)	ENSP00000446475.1:p.Asn935GlyfsTer2
ENST00000614496.4:c.2283_2286dup (MSH6)	ENSP00000477844.1:p.Asn763GlyfsTer2
ENST00000622629.4:c.93_96dup (MSH6)	ENSP00000482078.1:p.Asn33GlyfsTer2
NM_000179.2:c.3189_3192dup , LRG_219t1:c.3189_3192dup (MSH6)	NP_000170.1:p.Asn1065GlyfsTer2
NM_001281492.1:c.2799_2802dup (MSH6)	NP_001268421.1:p.Asn935GlyfsTer2
NM_001281493.1:c.2283_2286dup (MSH6)	NP_001268422.1:p.Asn763GlyfsTer2
NM_001281494.1:c.2283_2286dup (MSH6)	NP_001268423.1:p.Asn763GlyfsTer2
XM_005264271.1:c.2892_2895dup (MSH6)	XP_005264328.1:p.Asn966GlyfsTer2
XM_011532798.1:c.3006_3009dup (MSH6)	XP_011531100.1:p.Asn1004GlyfsTer2
XM_011532799.1:c.2892_2895dup (MSH6)	XP_011531101.1:p.Asn966GlyfsTer2
XM_011532800.1:c.2892_2895dup (MSH6)	XP_011531102.1:p.Asn966GlyfsTer2
XM_024452819.1:c.3189_3192dup (MSH6)	XP_024308587.1:p.Asn1065GlyfsTer2
XM_024452820.1:c.3006_3009dup (MSH6)	XP_024308588.1:p.Asn1004GlyfsTer2
XM_024452821.1:c.2892_2895dup (MSH6)	XP_024308589.1:p.Asn966GlyfsTer2
XM_024452822.1:c.2283_2286dup (MSH6)	XP_024308590.1:p.Asn763GlyfsTer2
NM_000179.3:c.3189_3192dup (MSH6) MANE Select	NP_000170.1:p.Asn1065GlyfsTer2
NM_001281492.2:c.2799_2802dup (MSH6)	NP_001268421.1:p.Asn935GlyfsTer2
NM_001281493.2:c.2283_2286dup (MSH6)	NP_001268422.1:p.Asn763GlyfsTer2
NM_001281494.2:c.2283_2286dup (MSH6)	NP_001268423.1:p.Asn763GlyfsTer2