Canonical Allele Identifier: CA2499216146

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1070916
• ClinVar RCV Id: RCV001383244
• dbSNP Id: rs2104565388

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806614_47806630dup , CM000664.2:g.47806614_47806630dup	GRCh38
NC_000002.11:g.48033753_48033769dup , CM000664.1:g.48033753_48033769dup	GRCh37
NC_000002.10:g.47887257_47887273dup	NCBI36
NG_007111.1:g.28468_28484dup , LRG_219:g.28468_28484dup
NG_008397.1:g.104047_104063dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3667_3683dup (MSH6)	ENSP00000406248.2:p.Asn1228LysfsTer6
ENST00000420813.6:c.3667_3683dup (MSH6)	ENSP00000390382.2:p.Asn1228LysfsTer6
ENST00000455383.6:c.3667_3683dup (MSH6)	ENSP00000397484.2:p.Asn1228LysfsTer6
ENST00000700004.2:c.3580_3596dup (MSH6)	ENSP00000514752.2:p.Asn1199LysfsTer6
ENST00000699999.1:n.4638_4654dup (MSH6)
ENST00000700000.1:c.2398_2414dup (MSH6)	ENSP00000514749.1:p.Asn805LysfsTer6
ENST00000700002.1:c.3970_3986dup (MSH6)	ENSP00000514750.1:p.Asn1329LysfsTer6
ENST00000700003.1:c.1419_1435dup (MSH6)	ENSP00000514751.1:n.1419_1435dup
ENST00000700004.1:c.2737_2753dup (MSH6)	ENSP00000514752.1:p.Asn918LysfsTer6
ENST00000700005.1:n.2815_2831dup (MSH6)
ENST00000700006.1:n.5122_5138dup (MSH6)
ENST00000700007.1:n.2559_2575dup (MSH6)
ENST00000700008.1:n.2226_2242dup (MSH6)
ENST00000700009.1:n.2628_2644dup (MSH6)
ENST00000700010.1:n.1373_1389dup (MSH6)
ENST00000700011.1:n.3258_3274dup (MSH6)
ENST00000682451.1:n.4119_4135dup (FBXO11)
ENST00000684712.1:n.4381_4397dup (FBXO11)
ENST00000234420.11:c.3964_3980dup (MSH6) MANE Select	ENSP00000234420.5:p.Asn1327LysfsTer6
ENST00000540021.6:c.3574_3590dup (MSH6)	ENSP00000446475.1:p.Asn1197LysfsTer6
ENST00000652107.1:c.3667_3683dup (MSH6)	ENSP00000498629.1:p.Asn1228LysfsTer6
ENST00000673637.1:c.3667_3683dup (MSH6)	ENSP00000501310.1:p.Asn1228LysfsTer6
ENST00000234420.9:c.3964_3980dup (MSH6)	ENSP00000234420.4:p.Asn1327LysfsTer6
ENST00000405808.5:c.169+1566_169+1582dup (FBXO11)	ENSP00000385127.1:n.169+1566_169+1582dup
ENST00000434234.5:c.*124+1365_*124+1381dup (FBXO11)	ENSP00000402692.1:n.*124+1365_*124+1381dup
ENST00000445503.5:c.*3311_*3327dup (MSH6)	ENSP00000405294.1:n.*3311_*3327dup
ENST00000538136.1:c.3058_3074dup (MSH6)	ENSP00000438580.1:p.Asn1025LysfsTer6
ENST00000540021.5:c.3574_3590dup (MSH6)	ENSP00000446475.1:p.Asn1197LysfsTer6
ENST00000614496.4:c.3058_3074dup (MSH6)	ENSP00000477844.1:p.Asn1025LysfsTer6
ENST00000622629.4:c.865_881dup (MSH6)	ENSP00000482078.1:p.Asn294LysfsTer6
NM_000179.2:c.3964_3980dup , LRG_219t1:c.3964_3980dup (MSH6)	NP_000170.1:p.Asn1327LysfsTer6
NM_001281492.1:c.3574_3590dup (MSH6)	NP_001268421.1:p.Asn1197LysfsTer6
NM_001281493.1:c.3058_3074dup (MSH6)	NP_001268422.1:p.Asn1025LysfsTer6
NM_001281494.1:c.3058_3074dup (MSH6)	NP_001268423.1:p.Asn1025LysfsTer6
XM_005264271.1:c.3667_3683dup (MSH6)	XP_005264328.1:p.Asn1228LysfsTer6
XM_011532798.1:c.3781_3797dup (MSH6)	XP_011531100.1:p.Asn1266LysfsTer6
XM_011532799.1:c.3667_3683dup (MSH6)	XP_011531101.1:p.Asn1228LysfsTer6
XM_011532800.1:c.3667_3683dup (MSH6)	XP_011531102.1:p.Asn1228LysfsTer6
XM_024452819.1:c.4057_4073dup (MSH6)	XP_024308587.1:p.Asn1358LysfsTer6
XM_024452820.1:c.3874_3890dup (MSH6)	XP_024308588.1:p.Asn1297LysfsTer6
XM_024452821.1:c.3760_3776dup (MSH6)	XP_024308589.1:p.Asn1259LysfsTer6
XM_024452822.1:c.3151_3167dup (MSH6)	XP_024308590.1:p.Asn1056LysfsTer6
NM_000179.3:c.3964_3980dup (MSH6) MANE Select	NP_000170.1:p.Asn1327LysfsTer6
NM_001281492.2:c.3574_3590dup (MSH6)	NP_001268421.1:p.Asn1197LysfsTer6
NM_001281493.2:c.3058_3074dup (MSH6)	NP_001268422.1:p.Asn1025LysfsTer6
NM_001281494.2:c.3058_3074dup (MSH6)	NP_001268423.1:p.Asn1025LysfsTer6