Canonical Allele Identifier: CA658822262

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 545819
• ClinVar RCV Id: RCV000657377
• dbSNP Id: rs1553331378

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803501_47803502delinsT , CM000664.2:g.47803501_47803502delinsT	GRCh38
NC_000002.11:g.48030640_48030641delinsT , CM000664.1:g.48030640_48030641delinsT	GRCh37
NC_000002.10:g.47884144_47884145delinsT	NCBI36
NG_007111.1:g.25355_25356delinsT , LRG_219:g.25355_25356delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2957_2958delinsT (MSH6)	ENSP00000406248.2:p.Thr986IlefsTer5
ENST00000420813.6:c.2957_2958delinsT (MSH6)	ENSP00000390382.2:p.Thr986IlefsTer5
ENST00000455383.6:c.2957_2958delinsT (MSH6)	ENSP00000397484.2:p.Thr986IlefsTer5
ENST00000700004.2:c.3173-2117_3173-2116delinsT (MSH6)	ENSP00000514752.2:n.3173-2117_3173-2116delinsT
ENST00000699999.1:n.3338_3339delinsT (MSH6)
ENST00000700000.1:c.1688_1689delinsT (MSH6)	ENSP00000514749.1:p.Thr563IlefsTer5
ENST00000700002.1:c.3260_3261delinsT (MSH6)	ENSP00000514750.1:p.Thr1087IlefsTer5
ENST00000700003.1:c.709_710delinsT (MSH6)	ENSP00000514751.1:n.709_710delinsT
ENST00000700004.1:c.2330-2117_2330-2116delinsT (MSH6)	ENSP00000514752.1:n.2330-2117_2330-2116delinsT
ENST00000700005.1:n.2105_2106delinsT (MSH6)
ENST00000700006.1:n.2102_2103delinsT (MSH6)
ENST00000700007.1:n.1259_1260delinsT (MSH6)
ENST00000700008.1:n.833_834delinsT (MSH6)
ENST00000700009.1:n.832_833delinsT (MSH6)
ENST00000700010.1:n.663_664delinsT (MSH6)
ENST00000700011.1:n.734_735delinsT (MSH6)
ENST00000234420.11:c.3254_3255delinsT (MSH6) MANE Select	ENSP00000234420.5:p.Thr1085IlefsTer5
ENST00000540021.6:c.2864_2865delinsT (MSH6)	ENSP00000446475.1:p.Thr955IlefsTer5
ENST00000652107.1:c.2957_2958delinsT (MSH6)	ENSP00000498629.1:p.Thr986IlefsTer5
ENST00000673637.1:c.2957_2958delinsT (MSH6)	ENSP00000501310.1:p.Thr986IlefsTer5
ENST00000234420.9:c.3254_3255delinsT (MSH6)	ENSP00000234420.4:p.Thr1085IlefsTer5
ENST00000405808.5:c.169+4693_169+4694delinsA (FBXO11)	ENSP00000385127.1:n.169+4693_169+4694delinsA
ENST00000434234.5:c.*124+4492_*124+4493delinsA (FBXO11)	ENSP00000402692.1:n.*124+4492_*124+4493delinsA
ENST00000445503.5:c.*2601_*2602delinsT (MSH6)	ENSP00000405294.1:n.*2601_*2602delinsT
ENST00000538136.1:c.2348_2349delinsT (MSH6)	ENSP00000438580.1:p.Thr783IlefsTer5
ENST00000540021.5:c.2864_2865delinsT (MSH6)	ENSP00000446475.1:p.Thr955IlefsTer5
ENST00000614496.4:c.2348_2349delinsT (MSH6)	ENSP00000477844.1:p.Thr783IlefsTer5
ENST00000622629.4:c.158_159delinsT (MSH6)	ENSP00000482078.1:p.Thr53IlefsTer5
NM_000179.2:c.3254_3255delinsT , LRG_219t1:c.3254_3255delinsT (MSH6)	NP_000170.1:p.Thr1085IlefsTer5
NM_001281492.1:c.2864_2865delinsT (MSH6)	NP_001268421.1:p.Thr955IlefsTer5
NM_001281493.1:c.2348_2349delinsT (MSH6)	NP_001268422.1:p.Thr783IlefsTer5
NM_001281494.1:c.2348_2349delinsT (MSH6)	NP_001268423.1:p.Thr783IlefsTer5
XM_005264271.1:c.2957_2958delinsT (MSH6)	XP_005264328.1:p.Thr986IlefsTer5
XM_011532798.1:c.3071_3072delinsT (MSH6)	XP_011531100.1:p.Thr1024IlefsTer5
XM_011532799.1:c.2957_2958delinsT (MSH6)	XP_011531101.1:p.Thr986IlefsTer5
XM_011532800.1:c.2957_2958delinsT (MSH6)	XP_011531102.1:p.Thr986IlefsTer5
XM_024452819.1:c.3254_3255delinsT (MSH6)	XP_024308587.1:p.Thr1085IlefsTer5
XM_024452820.1:c.3071_3072delinsT (MSH6)	XP_024308588.1:p.Thr1024IlefsTer5
XM_024452821.1:c.2957_2958delinsT (MSH6)	XP_024308589.1:p.Thr986IlefsTer5
XM_024452822.1:c.2348_2349delinsT (MSH6)	XP_024308590.1:p.Thr783IlefsTer5
NM_000179.3:c.3254_3255delinsT (MSH6) MANE Select	NP_000170.1:p.Thr1085IlefsTer5
NM_001281492.2:c.2864_2865delinsT (MSH6)	NP_001268421.1:p.Thr955IlefsTer5
NM_001281493.2:c.2348_2349delinsT (MSH6)	NP_001268422.1:p.Thr783IlefsTer5
NM_001281494.2:c.2348_2349delinsT (MSH6)	NP_001268423.1:p.Thr783IlefsTer5