Canonical Allele Identifier: CA2580612950

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2575377
• ClinVar RCV Id: RCV003320952

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805003_47805004insTATG , CM000664.2:g.47805003_47805004insTATG	GRCh38
NC_000002.11:g.48032142_48032143insTATG , CM000664.1:g.48032142_48032143insTATG	GRCh37
NC_000002.10:g.47885646_47885647insTATG	NCBI36
NG_007111.1:g.26857_26858insTATG , LRG_219:g.26857_26858insTATG
NG_008397.1:g.105674_105675insTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3235_3236insTATG (MSH6)	ENSP00000406248.2:p.Gly1079ValfsTer11
ENST00000420813.6:c.3235_3236insTATG (MSH6)	ENSP00000390382.2:p.Gly1079ValfsTer11
ENST00000455383.6:c.3235_3236insTATG (MSH6)	ENSP00000397484.2:p.Gly1079ValfsTer11
ENST00000700004.2:c.3173-615_3173-614insTATG (MSH6)	ENSP00000514752.2:n.3173-615_3173-614insTATG
ENST00000699999.1:n.3616_3617insTATG (MSH6)
ENST00000700000.1:c.1966_1967insTATG (MSH6)	ENSP00000514749.1:p.Gly656ValfsTer11
ENST00000700002.1:c.3538_3539insTATG (MSH6)	ENSP00000514750.1:p.Gly1180ValfsTer11
ENST00000700003.1:c.987_988insTATG (MSH6)	ENSP00000514751.1:n.987_988insTATG
ENST00000700004.1:c.2330-615_2330-614insTATG (MSH6)	ENSP00000514752.1:n.2330-615_2330-614insTATG
ENST00000700005.1:n.2383_2384insTATG (MSH6)
ENST00000700006.1:n.3604_3605insTATG (MSH6)
ENST00000700007.1:n.1537_1538insTATG (MSH6)
ENST00000700008.1:n.1111_1112insTATG (MSH6)
ENST00000700009.1:n.1110_1111insTATG (MSH6)
ENST00000700010.1:n.941_942insTATG (MSH6)
ENST00000700011.1:n.2236_2237insTATG (MSH6)
ENST00000234420.11:c.3532_3533insTATG (MSH6) MANE Select	ENSP00000234420.5:p.Gly1178ValfsTer11
ENST00000540021.6:c.3142_3143insTATG (MSH6)	ENSP00000446475.1:p.Gly1048ValfsTer11
ENST00000652107.1:c.3235_3236insTATG (MSH6)	ENSP00000498629.1:p.Gly1079ValfsTer11
ENST00000673637.1:c.3235_3236insTATG (MSH6)	ENSP00000501310.1:p.Gly1079ValfsTer11
ENST00000234420.9:c.3532_3533insTATG (MSH6)	ENSP00000234420.4:p.Gly1178ValfsTer11
ENST00000405808.5:c.169+3193_169+3194insTACA (FBXO11)	ENSP00000385127.1:n.169+3193_169+3194insTACA
ENST00000434234.5:c.*124+2992_*124+2993insTACA (FBXO11)	ENSP00000402692.1:n.*124+2992_*124+2993insTACA
ENST00000445503.5:c.*2879_*2880insTATG (MSH6)	ENSP00000405294.1:n.*2879_*2880insTATG
ENST00000538136.1:c.2626_2627insTATG (MSH6)	ENSP00000438580.1:p.Gly876ValfsTer11
ENST00000540021.5:c.3142_3143insTATG (MSH6)	ENSP00000446475.1:p.Gly1048ValfsTer11
ENST00000614496.4:c.2626_2627insTATG (MSH6)	ENSP00000477844.1:p.Gly876ValfsTer11
ENST00000622629.4:c.436_437insTATG (MSH6)	ENSP00000482078.1:p.Gly146ValfsTer11
NM_000179.2:c.3532_3533insTATG , LRG_219t1:c.3532_3533insTATG (MSH6)	NP_000170.1:p.Gly1178ValfsTer11
NM_001281492.1:c.3142_3143insTATG (MSH6)	NP_001268421.1:p.Gly1048ValfsTer11
NM_001281493.1:c.2626_2627insTATG (MSH6)	NP_001268422.1:p.Gly876ValfsTer11
NM_001281494.1:c.2626_2627insTATG (MSH6)	NP_001268423.1:p.Gly876ValfsTer11
XM_005264271.1:c.3235_3236insTATG (MSH6)	XP_005264328.1:p.Gly1079ValfsTer11
XM_011532798.1:c.3349_3350insTATG (MSH6)	XP_011531100.1:p.Gly1117ValfsTer11
XM_011532799.1:c.3235_3236insTATG (MSH6)	XP_011531101.1:p.Gly1079ValfsTer11
XM_011532800.1:c.3235_3236insTATG (MSH6)	XP_011531102.1:p.Gly1079ValfsTer11
XM_024452819.1:c.3532_3533insTATG (MSH6)	XP_024308587.1:p.Gly1178ValfsTer11
XM_024452820.1:c.3349_3350insTATG (MSH6)	XP_024308588.1:p.Gly1117ValfsTer11
XM_024452821.1:c.3235_3236insTATG (MSH6)	XP_024308589.1:p.Gly1079ValfsTer11
XM_024452822.1:c.2626_2627insTATG (MSH6)	XP_024308590.1:p.Gly876ValfsTer11
NM_000179.3:c.3532_3533insTATG (MSH6) MANE Select	NP_000170.1:p.Gly1178ValfsTer11
NM_001281492.2:c.3142_3143insTATG (MSH6)	NP_001268421.1:p.Gly1048ValfsTer11
NM_001281493.2:c.2626_2627insTATG (MSH6)	NP_001268422.1:p.Gly876ValfsTer11
NM_001281494.2:c.2626_2627insTATG (MSH6)	NP_001268423.1:p.Gly876ValfsTer11