Canonical Allele Identifier: CA913188042

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 667011
• ClinVar RCV Id: RCV000825600 ; RCV001358735 ; RCV001388972 ; RCV003453748
• dbSNP Id: rs1572747278

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806570_47806573dup , CM000664.2:g.47806570_47806573dup	GRCh38
NC_000002.11:g.48033709_48033712dup , CM000664.1:g.48033709_48033712dup	GRCh37
NC_000002.10:g.47887213_47887216dup	NCBI36
NG_007111.1:g.28424_28427dup , LRG_219:g.28424_28427dup
NG_008397.1:g.104103_104106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3623_3626dup (MSH6)	ENSP00000406248.2:p.Pro1210SerfsTer11
ENST00000420813.6:c.3623_3626dup (MSH6)	ENSP00000390382.2:p.Pro1210SerfsTer11
ENST00000455383.6:c.3623_3626dup (MSH6)	ENSP00000397484.2:p.Pro1210SerfsTer11
ENST00000700004.2:c.3536_3539dup (MSH6)	ENSP00000514752.2:p.Pro1181SerfsTer11
ENST00000699999.1:n.4594_4597dup (MSH6)
ENST00000700000.1:c.2354_2357dup (MSH6)	ENSP00000514749.1:p.Pro787SerfsTer11
ENST00000700002.1:c.3926_3929dup (MSH6)	ENSP00000514750.1:p.Pro1311SerfsTer11
ENST00000700003.1:c.1375_1378dup (MSH6)	ENSP00000514751.1:n.1375_1378dup
ENST00000700004.1:c.2693_2696dup (MSH6)	ENSP00000514752.1:p.Pro900SerfsTer11
ENST00000700005.1:n.2771_2774dup (MSH6)
ENST00000700006.1:n.5078_5081dup (MSH6)
ENST00000700007.1:n.2515_2518dup (MSH6)
ENST00000700008.1:n.2182_2185dup (MSH6)
ENST00000700009.1:n.2584_2587dup (MSH6)
ENST00000700010.1:n.1329_1332dup (MSH6)
ENST00000700011.1:n.3214_3217dup (MSH6)
ENST00000682451.1:n.4175_4178dup (FBXO11)
ENST00000684712.1:n.4437_4440dup (FBXO11)
ENST00000234420.11:c.3920_3923dup (MSH6) MANE Select	ENSP00000234420.5:p.Pro1309SerfsTer11
ENST00000540021.6:c.3530_3533dup (MSH6)	ENSP00000446475.1:p.Pro1179SerfsTer11
ENST00000652107.1:c.3623_3626dup (MSH6)	ENSP00000498629.1:p.Pro1210SerfsTer11
ENST00000673637.1:c.3623_3626dup (MSH6)	ENSP00000501310.1:p.Pro1210SerfsTer11
ENST00000234420.9:c.3920_3923dup (MSH6)	ENSP00000234420.4:p.Pro1309SerfsTer11
ENST00000405808.5:c.169+1622_169+1625dup (FBXO11)	ENSP00000385127.1:n.169+1622_169+1625dup
ENST00000434234.5:c.*124+1421_*124+1424dup (FBXO11)	ENSP00000402692.1:n.*124+1421_*124+1424dup
ENST00000445503.5:c.*3267_*3270dup (MSH6)	ENSP00000405294.1:n.*3267_*3270dup
ENST00000538136.1:c.3014_3017dup (MSH6)	ENSP00000438580.1:p.Pro1007SerfsTer11
ENST00000540021.5:c.3530_3533dup (MSH6)	ENSP00000446475.1:p.Pro1179SerfsTer11
ENST00000614496.4:c.3014_3017dup (MSH6)	ENSP00000477844.1:p.Pro1007SerfsTer11
ENST00000622629.4:c.821_824dup (MSH6)	ENSP00000482078.1:p.Pro276SerfsTer11
NM_000179.2:c.3920_3923dup , LRG_219t1:c.3920_3923dup (MSH6)	NP_000170.1:p.Pro1309SerfsTer11
NM_001281492.1:c.3530_3533dup (MSH6)	NP_001268421.1:p.Pro1179SerfsTer11
NM_001281493.1:c.3014_3017dup (MSH6)	NP_001268422.1:p.Pro1007SerfsTer11
NM_001281494.1:c.3014_3017dup (MSH6)	NP_001268423.1:p.Pro1007SerfsTer11
XM_005264271.1:c.3623_3626dup (MSH6)	XP_005264328.1:p.Pro1210SerfsTer11
XM_011532798.1:c.3737_3740dup (MSH6)	XP_011531100.1:p.Pro1248SerfsTer11
XM_011532799.1:c.3623_3626dup (MSH6)	XP_011531101.1:p.Pro1210SerfsTer11
XM_011532800.1:c.3623_3626dup (MSH6)	XP_011531102.1:p.Pro1210SerfsTer11
XM_024452819.1:c.4013_4016dup (MSH6)	XP_024308587.1:p.Pro1340SerfsTer11
XM_024452820.1:c.3830_3833dup (MSH6)	XP_024308588.1:p.Pro1279SerfsTer11
XM_024452821.1:c.3716_3719dup (MSH6)	XP_024308589.1:p.Pro1241SerfsTer11
XM_024452822.1:c.3107_3110dup (MSH6)	XP_024308590.1:p.Pro1038SerfsTer11
NM_000179.3:c.3920_3923dup (MSH6) MANE Select	NP_000170.1:p.Pro1309SerfsTer11
NM_001281492.2:c.3530_3533dup (MSH6)	NP_001268421.1:p.Pro1179SerfsTer11
NM_001281493.2:c.3014_3017dup (MSH6)	NP_001268422.1:p.Pro1007SerfsTer11
NM_001281494.2:c.3014_3017dup (MSH6)	NP_001268423.1:p.Pro1007SerfsTer11