Canonical Allele Identifier: CA2499216130

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1072255
• ClinVar RCV Id: RCV001384913 ; RCV002456600
• dbSNP Id: rs2104509127

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805002_47805009del , CM000664.2:g.47805002_47805009del	GRCh38
NC_000002.11:g.48032141_48032148del , CM000664.1:g.48032141_48032148del	GRCh37
NC_000002.10:g.47885645_47885652del	NCBI36
NG_007111.1:g.26856_26863del , LRG_219:g.26856_26863del
NG_008397.1:g.105669_105676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3234_3241del (MSH6)	ENSP00000406248.2:p.Gly1079ArgfsTer7
ENST00000420813.6:c.3234_3241del (MSH6)	ENSP00000390382.2:p.Gly1079ArgfsTer7
ENST00000455383.6:c.3234_3241del (MSH6)	ENSP00000397484.2:p.Gly1079ArgfsTer7
ENST00000700004.2:c.3173-616_3173-609del (MSH6)	ENSP00000514752.2:n.3173-616_3173-609del
ENST00000699999.1:n.3615_3622del (MSH6)
ENST00000700000.1:c.1965_1972del (MSH6)	ENSP00000514749.1:p.Gly656ArgfsTer7
ENST00000700002.1:c.3537_3544del (MSH6)	ENSP00000514750.1:p.Gly1180ArgfsTer7
ENST00000700003.1:c.986_993del (MSH6)	ENSP00000514751.1:n.986_993del
ENST00000700004.1:c.2330-616_2330-609del (MSH6)	ENSP00000514752.1:n.2330-616_2330-609del
ENST00000700005.1:n.2382_2389del (MSH6)
ENST00000700006.1:n.3603_3610del (MSH6)
ENST00000700007.1:n.1536_1543del (MSH6)
ENST00000700008.1:n.1110_1117del (MSH6)
ENST00000700009.1:n.1109_1116del (MSH6)
ENST00000700010.1:n.940_947del (MSH6)
ENST00000700011.1:n.2235_2242del (MSH6)
ENST00000234420.11:c.3531_3538del (MSH6) MANE Select	ENSP00000234420.5:p.Gly1178ArgfsTer7
ENST00000540021.6:c.3141_3148del (MSH6)	ENSP00000446475.1:p.Gly1048ArgfsTer7
ENST00000652107.1:c.3234_3241del (MSH6)	ENSP00000498629.1:p.Gly1079ArgfsTer7
ENST00000673637.1:c.3234_3241del (MSH6)	ENSP00000501310.1:p.Gly1079ArgfsTer7
ENST00000234420.9:c.3531_3538del (MSH6)	ENSP00000234420.4:p.Gly1178ArgfsTer7
ENST00000405808.5:c.169+3188_169+3195del (FBXO11)	ENSP00000385127.1:n.169+3188_169+3195del
ENST00000434234.5:c.*124+2987_*124+2994del (FBXO11)	ENSP00000402692.1:n.*124+2987_*124+2994del
ENST00000445503.5:c.*2878_*2885del (MSH6)	ENSP00000405294.1:n.*2878_*2885del
ENST00000538136.1:c.2625_2632del (MSH6)	ENSP00000438580.1:p.Gly876ArgfsTer7
ENST00000540021.5:c.3141_3148del (MSH6)	ENSP00000446475.1:p.Gly1048ArgfsTer7
ENST00000614496.4:c.2625_2632del (MSH6)	ENSP00000477844.1:p.Gly876ArgfsTer7
ENST00000622629.4:c.435_442del (MSH6)	ENSP00000482078.1:p.Gly146ArgfsTer7
NM_000179.2:c.3531_3538del , LRG_219t1:c.3531_3538del (MSH6)	NP_000170.1:p.Gly1178ArgfsTer7
NM_001281492.1:c.3141_3148del (MSH6)	NP_001268421.1:p.Gly1048ArgfsTer7
NM_001281493.1:c.2625_2632del (MSH6)	NP_001268422.1:p.Gly876ArgfsTer7
NM_001281494.1:c.2625_2632del (MSH6)	NP_001268423.1:p.Gly876ArgfsTer7
XM_005264271.1:c.3234_3241del (MSH6)	XP_005264328.1:p.Gly1079ArgfsTer7
XM_011532798.1:c.3348_3355del (MSH6)	XP_011531100.1:p.Gly1117ArgfsTer7
XM_011532799.1:c.3234_3241del (MSH6)	XP_011531101.1:p.Gly1079ArgfsTer7
XM_011532800.1:c.3234_3241del (MSH6)	XP_011531102.1:p.Gly1079ArgfsTer7
XM_024452819.1:c.3531_3538del (MSH6)	XP_024308587.1:p.Gly1178ArgfsTer7
XM_024452820.1:c.3348_3355del (MSH6)	XP_024308588.1:p.Gly1117ArgfsTer7
XM_024452821.1:c.3234_3241del (MSH6)	XP_024308589.1:p.Gly1079ArgfsTer7
XM_024452822.1:c.2625_2632del (MSH6)	XP_024308590.1:p.Gly876ArgfsTer7
NM_000179.3:c.3531_3538del (MSH6) MANE Select	NP_000170.1:p.Gly1178ArgfsTer7
NM_001281492.2:c.3141_3148del (MSH6)	NP_001268421.1:p.Gly1048ArgfsTer7
NM_001281493.2:c.2625_2632del (MSH6)	NP_001268422.1:p.Gly876ArgfsTer7
NM_001281494.2:c.2625_2632del (MSH6)	NP_001268423.1:p.Gly876ArgfsTer7