Canonical Allele Identifier: CA1139656994

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 921115
• ClinVar RCV Id: RCV001180265 ; RCV001875982
• dbSNP Id: rs1670211088
• gnomAD v4: 2-47806791-G-GGCTAGTGAAAGGTCAACTGTAGATGCTGAAGCTGTCCATAAATTGCTGACTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806793_47806845dup , CM000664.2:g.47806793_47806845dup	GRCh38
NC_000002.11:g.48033932_48033984dup , CM000664.1:g.48033932_48033984dup	GRCh37
NC_000002.10:g.47887436_47887488dup	NCBI36
NG_007111.1:g.28647_28699dup , LRG_219:g.28647_28699dup
NG_008397.1:g.103832_103884dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3719_3771dup (MSH6)	ENSP00000406248.2:p.Ile1258LeufsTer7
ENST00000420813.6:c.3719_3771dup (MSH6)	ENSP00000390382.2:p.Ile1258LeufsTer7
ENST00000455383.6:c.3719_3771dup (MSH6)	ENSP00000397484.2:p.Ile1258LeufsTer7
ENST00000700004.2:c.3632_3684dup (MSH6)	ENSP00000514752.2:p.Ile1229LeufsTer7
ENST00000699999.1:n.4690_4742dup (MSH6)
ENST00000700000.1:c.2450_2502dup (MSH6)	ENSP00000514749.1:p.Ile835LeufsTer7
ENST00000700002.1:c.4022_4074dup (MSH6)	ENSP00000514750.1:p.Ile1359LeufsTer7
ENST00000700003.1:c.1471_1523dup (MSH6)	ENSP00000514751.1:n.1471_1523dup
ENST00000700004.1:c.2789_2841dup (MSH6)	ENSP00000514752.1:p.Ile948LeufsTer7
ENST00000700005.1:n.2994_3046dup (MSH6)
ENST00000700007.1:n.2611_2663dup (MSH6)
ENST00000700008.1:n.2278_2330dup (MSH6)
ENST00000700009.1:n.2680_2732dup (MSH6)
ENST00000700010.1:n.1425_1477dup (MSH6)
ENST00000700011.1:n.3310_3362dup (MSH6)
ENST00000682451.1:n.3904_3956dup (FBXO11)
ENST00000684712.1:n.4166_4218dup (FBXO11)
ENST00000234420.11:c.4016_4068dup (MSH6) MANE Select	ENSP00000234420.5:p.Ile1357LeufsTer7
ENST00000540021.6:c.3626_3678dup (MSH6)	ENSP00000446475.1:p.Ile1227LeufsTer7
ENST00000652107.1:c.3719_3771dup (MSH6)	ENSP00000498629.1:p.Ile1258LeufsTer7
ENST00000673637.1:c.3719_3771dup (MSH6)	ENSP00000501310.1:p.Ile1258LeufsTer7
ENST00000234420.9:c.4016_4068dup (MSH6)	ENSP00000234420.4:p.Ile1357LeufsTer7
ENST00000405808.5:c.169+1351_169+1403dup (FBXO11)	ENSP00000385127.1:n.169+1351_169+1403dup
ENST00000434234.5:c.*124+1150_*124+1202dup (FBXO11)	ENSP00000402692.1:n.*124+1150_*124+1202dup
ENST00000445503.5:c.*3363_*3415dup (MSH6)	ENSP00000405294.1:n.*3363_*3415dup
ENST00000465204.5:n.3066_3118dup (FBXO11)
ENST00000538136.1:c.3110_3162dup (MSH6)	ENSP00000438580.1:p.Ile1055LeufsTer7
ENST00000540021.5:c.3626_3678dup (MSH6)	ENSP00000446475.1:p.Ile1227LeufsTer7
ENST00000614496.4:c.3110_3162dup (MSH6)	ENSP00000477844.1:p.Ile1055LeufsTer7
ENST00000622629.4:c.917_969dup (MSH6)	ENSP00000482078.1:p.Ile324LeufsTer7
NM_000179.2:c.4016_4068dup , LRG_219t1:c.4016_4068dup (MSH6)	NP_000170.1:p.Ile1357LeufsTer7
NM_001281492.1:c.3626_3678dup (MSH6)	NP_001268421.1:p.Ile1227LeufsTer7
NM_001281493.1:c.3110_3162dup (MSH6)	NP_001268422.1:p.Ile1055LeufsTer7
NM_001281494.1:c.3110_3162dup (MSH6)	NP_001268423.1:p.Ile1055LeufsTer7
XM_005264271.1:c.3719_3771dup (MSH6)	XP_005264328.1:p.Ile1258LeufsTer7
XM_011532798.1:c.3833_3885dup (MSH6)	XP_011531100.1:p.Ile1296LeufsTer7
XM_011532799.1:c.3719_3771dup (MSH6)	XP_011531101.1:p.Ile1258LeufsTer7
XM_011532800.1:c.3719_3771dup (MSH6)	XP_011531102.1:p.Ile1258LeufsTer7
XM_024452819.1:c.4109_4161dup (MSH6)	XP_024308587.1:p.Ile1388LeufsTer7
XM_024452820.1:c.3926_3978dup (MSH6)	XP_024308588.1:p.Ile1327LeufsTer7
XM_024452821.1:c.3812_3864dup (MSH6)	XP_024308589.1:p.Ile1289LeufsTer7
XM_024452822.1:c.3203_3255dup (MSH6)	XP_024308590.1:p.Ile1086LeufsTer7
NM_000179.3:c.4016_4068dup (MSH6) MANE Select	NP_000170.1:p.Ile1357LeufsTer7
NM_001281492.2:c.3626_3678dup (MSH6)	NP_001268421.1:p.Ile1227LeufsTer7
NM_001281493.2:c.3110_3162dup (MSH6)	NP_001268422.1:p.Ile1055LeufsTer7
NM_001281494.2:c.3110_3162dup (MSH6)	NP_001268423.1:p.Ile1055LeufsTer7