Canonical Allele Identifier: CA915943809

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 818925
• ClinVar RCV Id: RCV001011016
• dbSNP Id: rs1572722552

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799307_47799309del , CM000664.2:g.47799307_47799309del	GRCh38
NC_000002.11:g.48026446_48026448del , CM000664.1:g.48026446_48026448del	GRCh37
NC_000002.10:g.47879950_47879952del	NCBI36
NG_007111.1:g.21161_21163del , LRG_219:g.21161_21163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1027_1029del (MSH6)	ENSP00000406248.2:p.Ile343del
ENST00000420813.6:c.1027_1029del (MSH6)	ENSP00000390382.2:p.Ile343del
ENST00000455383.6:c.1027_1029del (MSH6)	ENSP00000397484.2:p.Ile343del
ENST00000700004.2:c.1324_1326del (MSH6)	ENSP00000514752.2:p.Ile442del
ENST00000699999.1:n.1408_1410del (MSH6)
ENST00000700000.1:c.1324_1326del (MSH6)	ENSP00000514749.1:p.Ile442del
ENST00000700002.1:c.1330_1332del (MSH6)	ENSP00000514750.1:p.Ile444del
ENST00000700003.1:c.627+3244_627+3246del (MSH6)	ENSP00000514751.1:n.627+3244_627+3246del
ENST00000700004.1:c.481_483del (MSH6)	ENSP00000514752.1:p.Ile161del
ENST00000234420.11:c.1324_1326del (MSH6) MANE Select	ENSP00000234420.5:p.Ile442del
ENST00000540021.6:c.934_936del (MSH6)	ENSP00000446475.1:p.Ile312del
ENST00000652107.1:c.1027_1029del (MSH6)	ENSP00000498629.1:p.Ile343del
ENST00000673637.1:c.1027_1029del (MSH6)	ENSP00000501310.1:p.Ile343del
ENST00000234420.9:c.1324_1326del (MSH6)	ENSP00000234420.4:p.Ile442del
ENST00000405808.5:c.169+8888_169+8890del (FBXO11)	ENSP00000385127.1:n.169+8888_169+8890del
ENST00000434234.5:c.*124+8687_*124+8689del (FBXO11)	ENSP00000402692.1:n.*124+8687_*124+8689del
ENST00000445503.5:c.*671_*673del (MSH6)	ENSP00000405294.1:n.*671_*673del
ENST00000538136.1:c.418_420del (MSH6)	ENSP00000438580.1:p.Ile140del
ENST00000540021.5:c.934_936del (MSH6)	ENSP00000446475.1:p.Ile312del
ENST00000614496.4:c.418_420del (MSH6)	ENSP00000477844.1:p.Ile140del
ENST00000616033.4:c.1321_1323del (MSH6)	ENSP00000480261.1:p.Ile441del
ENST00000622629.4:c.-1773_-1771del (MSH6)	ENSP00000482078.1:n.-1773_-1771del
NM_000179.2:c.1324_1326del , LRG_219t1:c.1324_1326del (MSH6)	NP_000170.1:p.Ile442del
NM_001281492.1:c.934_936del (MSH6)	NP_001268421.1:p.Ile312del
NM_001281493.1:c.418_420del (MSH6)	NP_001268422.1:p.Ile140del
NM_001281494.1:c.418_420del (MSH6)	NP_001268423.1:p.Ile140del
XM_005264271.1:c.1027_1029del (MSH6)	XP_005264328.1:p.Ile343del
XM_011532798.1:c.1141_1143del (MSH6)	XP_011531100.1:p.Ile381del
XM_011532799.1:c.1027_1029del (MSH6)	XP_011531101.1:p.Ile343del
XM_011532800.1:c.1027_1029del (MSH6)	XP_011531102.1:p.Ile343del
XM_024452819.1:c.1324_1326del (MSH6)	XP_024308587.1:p.Ile442del
XM_024452820.1:c.1141_1143del (MSH6)	XP_024308588.1:p.Ile381del
XM_024452821.1:c.1027_1029del (MSH6)	XP_024308589.1:p.Ile343del
XM_024452822.1:c.418_420del (MSH6)	XP_024308590.1:p.Ile140del
NM_000179.3:c.1324_1326del (MSH6) MANE Select	NP_000170.1:p.Ile442del
NM_001281492.2:c.934_936del (MSH6)	NP_001268421.1:p.Ile312del
NM_001281493.2:c.418_420del (MSH6)	NP_001268422.1:p.Ile140del
NM_001281494.2:c.418_420del (MSH6)	NP_001268423.1:p.Ile140del