Canonical Allele Identifier: CA012383

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 187409
• ClinVar RCV Id: RCV000167133
• dbSNP Id: rs786203712
• MyVariant Identifiers: chr2:g.48030653_48030654insC (hg19) ; chr2:g.47803514_47803515insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803514_47803515insC , CM000664.2:g.47803514_47803515insC	GRCh38
NC_000002.11:g.48030653_48030654insC , CM000664.1:g.48030653_48030654insC	GRCh37
NC_000002.10:g.47884157_47884158insC	NCBI36
NG_007111.1:g.25368_25369insC , LRG_219:g.25368_25369insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2970_2971insC (MSH6)	ENSP00000406248.2:p.Glu991ArgfsTer3
ENST00000420813.6:c.2970_2971insC (MSH6)	ENSP00000390382.2:p.Glu991ArgfsTer3
ENST00000455383.6:c.2970_2971insC (MSH6)	ENSP00000397484.2:p.Glu991ArgfsTer3
ENST00000700004.2:c.3173-2104_3173-2103insC (MSH6)	ENSP00000514752.2:n.3173-2104_3173-2103insC
ENST00000699999.1:n.3351_3352insC (MSH6)
ENST00000700000.1:c.1701_1702insC (MSH6)	ENSP00000514749.1:p.Glu568ArgfsTer3
ENST00000700002.1:c.3273_3274insC (MSH6)	ENSP00000514750.1:p.Glu1092ArgfsTer3
ENST00000700003.1:c.722_723insC (MSH6)	ENSP00000514751.1:n.722_723insC
ENST00000700004.1:c.2330-2104_2330-2103insC (MSH6)	ENSP00000514752.1:n.2330-2104_2330-2103insC
ENST00000700005.1:n.2118_2119insC (MSH6)
ENST00000700006.1:n.2115_2116insC (MSH6)
ENST00000700007.1:n.1272_1273insC (MSH6)
ENST00000700008.1:n.846_847insC (MSH6)
ENST00000700009.1:n.845_846insC (MSH6)
ENST00000700010.1:n.676_677insC (MSH6)
ENST00000700011.1:n.747_748insC (MSH6)
ENST00000234420.11:c.3267_3268insC (MSH6) MANE Select	ENSP00000234420.5:p.Glu1090ArgfsTer3
ENST00000540021.6:c.2877_2878insC (MSH6)	ENSP00000446475.1:p.Glu960ArgfsTer3
ENST00000652107.1:c.2970_2971insC (MSH6)	ENSP00000498629.1:p.Glu991ArgfsTer3
ENST00000673637.1:c.2970_2971insC (MSH6)	ENSP00000501310.1:p.Glu991ArgfsTer3
ENST00000234420.9:c.3267_3268insC (MSH6)	ENSP00000234420.4:p.Glu1090ArgfsTer3
ENST00000405808.5:c.169+4680_169+4681insG (FBXO11)	ENSP00000385127.1:n.169+4680_169+4681insG
ENST00000434234.5:c.*124+4479_*124+4480insG (FBXO11)	ENSP00000402692.1:n.*124+4479_*124+4480insG
ENST00000445503.5:c.*2614_*2615insC (MSH6)	ENSP00000405294.1:n.*2614_*2615insC
ENST00000538136.1:c.2361_2362insC (MSH6)	ENSP00000438580.1:p.Glu788ArgfsTer3
ENST00000540021.5:c.2877_2878insC (MSH6)	ENSP00000446475.1:p.Glu960ArgfsTer3
ENST00000614496.4:c.2361_2362insC (MSH6)	ENSP00000477844.1:p.Glu788ArgfsTer3
ENST00000622629.4:c.171_172insC (MSH6)	ENSP00000482078.1:p.Glu58ArgfsTer3
NM_000179.2:c.3267_3268insC , LRG_219t1:c.3267_3268insC (MSH6)	NP_000170.1:p.Glu1090ArgfsTer3
NM_001281492.1:c.2877_2878insC (MSH6)	NP_001268421.1:p.Glu960ArgfsTer3
NM_001281493.1:c.2361_2362insC (MSH6)	NP_001268422.1:p.Glu788ArgfsTer3
NM_001281494.1:c.2361_2362insC (MSH6)	NP_001268423.1:p.Glu788ArgfsTer3
XM_005264271.1:c.2970_2971insC (MSH6)	XP_005264328.1:p.Glu991ArgfsTer3
XM_011532798.1:c.3084_3085insC (MSH6)	XP_011531100.1:p.Glu1029ArgfsTer3
XM_011532799.1:c.2970_2971insC (MSH6)	XP_011531101.1:p.Glu991ArgfsTer3
XM_011532800.1:c.2970_2971insC (MSH6)	XP_011531102.1:p.Glu991ArgfsTer3
XM_024452819.1:c.3267_3268insC (MSH6)	XP_024308587.1:p.Glu1090ArgfsTer3
XM_024452820.1:c.3084_3085insC (MSH6)	XP_024308588.1:p.Glu1029ArgfsTer3
XM_024452821.1:c.2970_2971insC (MSH6)	XP_024308589.1:p.Glu991ArgfsTer3
XM_024452822.1:c.2361_2362insC (MSH6)	XP_024308590.1:p.Glu788ArgfsTer3
NM_000179.3:c.3267_3268insC (MSH6) MANE Select	NP_000170.1:p.Glu1090ArgfsTer3
NM_001281492.2:c.2877_2878insC (MSH6)	NP_001268421.1:p.Glu960ArgfsTer3
NM_001281493.2:c.2361_2362insC (MSH6)	NP_001268422.1:p.Glu788ArgfsTer3
NM_001281494.2:c.2361_2362insC (MSH6)	NP_001268423.1:p.Glu788ArgfsTer3