Canonical Allele Identifier: CA2580067315

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2104466
• ClinVar RCV Id: RCV003031391

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806306_47806321del , CM000664.2:g.47806306_47806321del	GRCh38
NC_000002.11:g.48033445_48033460del , CM000664.1:g.48033445_48033460del	GRCh37
NC_000002.10:g.47886949_47886964del	NCBI36
NG_007111.1:g.28160_28175del , LRG_219:g.28160_28175del
NG_008397.1:g.104355_104370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3452_3467del (MSH6)	ENSP00000406248.2:p.His1151LeufsTer10
ENST00000420813.6:c.3452_3467del (MSH6)	ENSP00000390382.2:p.His1151LeufsTer10
ENST00000455383.6:c.3452_3467del (MSH6)	ENSP00000397484.2:p.His1151LeufsTer10
ENST00000700004.2:c.3365_3380del (MSH6)	ENSP00000514752.2:p.His1122LeufsTer10
ENST00000699999.1:n.4423_4438del (MSH6)
ENST00000700000.1:c.2183_2198del (MSH6)	ENSP00000514749.1:p.His728LeufsTer10
ENST00000700002.1:c.3755_3770del (MSH6)	ENSP00000514750.1:p.His1252LeufsTer10
ENST00000700003.1:c.1204_1219del (MSH6)	ENSP00000514751.1:n.1204_1219del
ENST00000700004.1:c.2522_2537del (MSH6)	ENSP00000514752.1:p.His841LeufsTer10
ENST00000700005.1:n.2600_2615del (MSH6)
ENST00000700006.1:n.4907_4922del (MSH6)
ENST00000700007.1:n.2344_2359del (MSH6)
ENST00000700008.1:n.1918_1933del (MSH6)
ENST00000700009.1:n.2413_2428del (MSH6)
ENST00000700010.1:n.1158_1173del (MSH6)
ENST00000700011.1:n.3043_3058del (MSH6)
ENST00000682451.1:n.4427_4442del (FBXO11)
ENST00000684712.1:n.4689_4704del (FBXO11)
ENST00000234420.11:c.3749_3764del (MSH6) MANE Select	ENSP00000234420.5:p.His1250LeufsTer10
ENST00000540021.6:c.3359_3374del (MSH6)	ENSP00000446475.1:p.His1120LeufsTer10
ENST00000652107.1:c.3452_3467del (MSH6)	ENSP00000498629.1:p.His1151LeufsTer10
ENST00000673637.1:c.3452_3467del (MSH6)	ENSP00000501310.1:p.His1151LeufsTer10
ENST00000234420.9:c.3749_3764del (MSH6)	ENSP00000234420.4:p.His1250LeufsTer10
ENST00000405808.5:c.169+1874_169+1889del (FBXO11)	ENSP00000385127.1:n.169+1874_169+1889del
ENST00000434234.5:c.*124+1673_*124+1688del (FBXO11)	ENSP00000402692.1:n.*124+1673_*124+1688del
ENST00000445503.5:c.*3096_*3111del (MSH6)	ENSP00000405294.1:n.*3096_*3111del
ENST00000538136.1:c.2843_2858del (MSH6)	ENSP00000438580.1:p.His948LeufsTer10
ENST00000540021.5:c.3359_3374del (MSH6)	ENSP00000446475.1:p.His1120LeufsTer10
ENST00000614496.4:c.2843_2858del (MSH6)	ENSP00000477844.1:p.His948LeufsTer10
ENST00000622629.4:c.653_666del (MSH6)
NM_000179.2:c.3749_3764del , LRG_219t1:c.3749_3764del (MSH6)	NP_000170.1:p.His1250LeufsTer10
NM_001281492.1:c.3359_3374del (MSH6)	NP_001268421.1:p.His1120LeufsTer10
NM_001281493.1:c.2843_2858del (MSH6)	NP_001268422.1:p.His948LeufsTer10
NM_001281494.1:c.2843_2858del (MSH6)	NP_001268423.1:p.His948LeufsTer10
XM_005264271.1:c.3452_3467del (MSH6)	XP_005264328.1:p.His1151LeufsTer10
XM_011532798.1:c.3566_3581del (MSH6)	XP_011531100.1:p.His1189LeufsTer10
XM_011532799.1:c.3452_3467del (MSH6)	XP_011531101.1:p.His1151LeufsTer10
XM_011532800.1:c.3452_3467del (MSH6)	XP_011531102.1:p.His1151LeufsTer10
XM_024452819.1:c.3749_3764del (MSH6)	XP_024308587.1:p.His1250LeufsTer10
XM_024452820.1:c.3566_3581del (MSH6)	XP_024308588.1:p.His1189LeufsTer10
XM_024452821.1:c.3452_3467del (MSH6)	XP_024308589.1:p.His1151LeufsTer10
XM_024452822.1:c.2843_2858del (MSH6)	XP_024308590.1:p.His948LeufsTer10
NM_000179.3:c.3749_3764del (MSH6) MANE Select	NP_000170.1:p.His1250LeufsTer10
NM_001281492.2:c.3359_3374del (MSH6)	NP_001268421.1:p.His1120LeufsTer10
NM_001281493.2:c.2843_2858del (MSH6)	NP_001268422.1:p.His948LeufsTer10
NM_001281494.2:c.2843_2858del (MSH6)	NP_001268423.1:p.His948LeufsTer10