Canonical Allele Identifier: CA2580067295

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1734245
• ClinVar RCV Id: RCV002349046 ; RCV003594202

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806274_47806290del , CM000664.2:g.47806274_47806290del	GRCh38
NC_000002.11:g.48033413_48033429del , CM000664.1:g.48033413_48033429del	GRCh37
NC_000002.10:g.47886917_47886933del	NCBI36
NG_007111.1:g.28128_28144del , LRG_219:g.28128_28144del
NG_008397.1:g.104389_104405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3420_3436del (MSH6)	ENSP00000406248.2:p.Lys1141PhefsTer29
ENST00000420813.6:c.3420_3436del (MSH6)	ENSP00000390382.2:p.Lys1141PhefsTer29
ENST00000455383.6:c.3420_3436del (MSH6)	ENSP00000397484.2:p.Lys1141PhefsTer29
ENST00000700004.2:c.3333_3349del (MSH6)	ENSP00000514752.2:p.Lys1112PhefsTer29
ENST00000699999.1:n.4391_4407del (MSH6)
ENST00000700000.1:c.2151_2167del (MSH6)	ENSP00000514749.1:p.Lys718PhefsTer29
ENST00000700002.1:c.3723_3739del (MSH6)	ENSP00000514750.1:p.Lys1242PhefsTer29
ENST00000700003.1:c.1172_1188del (MSH6)	ENSP00000514751.1:n.1172_1188del
ENST00000700004.1:c.2490_2506del (MSH6)	ENSP00000514752.1:p.Lys831PhefsTer29
ENST00000700005.1:n.2568_2584del (MSH6)
ENST00000700006.1:n.4875_4891del (MSH6)
ENST00000700007.1:n.2312_2328del (MSH6)
ENST00000700008.1:n.1886_1902del (MSH6)
ENST00000700009.1:n.2381_2397del (MSH6)
ENST00000700010.1:n.1126_1142del (MSH6)
ENST00000700011.1:n.3011_3027del (MSH6)
ENST00000682451.1:n.4461_4477del (FBXO11)
ENST00000684712.1:n.4723_4739del (FBXO11)
ENST00000234420.11:c.3717_3733del (MSH6) MANE Select	ENSP00000234420.5:p.Lys1240PhefsTer29
ENST00000540021.6:c.3327_3343del (MSH6)	ENSP00000446475.1:p.Lys1110PhefsTer29
ENST00000652107.1:c.3420_3436del (MSH6)	ENSP00000498629.1:p.Lys1141PhefsTer29
ENST00000673637.1:c.3420_3436del (MSH6)	ENSP00000501310.1:p.Lys1141PhefsTer29
ENST00000234420.9:c.3717_3733del (MSH6)	ENSP00000234420.4:p.Lys1240PhefsTer29
ENST00000405808.5:c.169+1908_169+1924del (FBXO11)	ENSP00000385127.1:n.169+1908_169+1924del
ENST00000434234.5:c.*124+1707_*124+1723del (FBXO11)	ENSP00000402692.1:n.*124+1707_*124+1723del
ENST00000445503.5:c.*3064_*3080del (MSH6)	ENSP00000405294.1:n.*3064_*3080del
ENST00000538136.1:c.2811_2827del (MSH6)	ENSP00000438580.1:p.Lys938PhefsTer29
ENST00000540021.5:c.3327_3343del (MSH6)	ENSP00000446475.1:p.Lys1110PhefsTer29
ENST00000614496.4:c.2811_2827del (MSH6)	ENSP00000477844.1:p.Lys938PhefsTer29
ENST00000622629.4:c.621_637del (MSH6)	ENSP00000482078.1:p.Lys208PhefsTer7
NM_000179.2:c.3717_3733del , LRG_219t1:c.3717_3733del (MSH6)	NP_000170.1:p.Lys1240PhefsTer29
NM_001281492.1:c.3327_3343del (MSH6)	NP_001268421.1:p.Lys1110PhefsTer29
NM_001281493.1:c.2811_2827del (MSH6)	NP_001268422.1:p.Lys938PhefsTer29
NM_001281494.1:c.2811_2827del (MSH6)	NP_001268423.1:p.Lys938PhefsTer29
XM_005264271.1:c.3420_3436del (MSH6)	XP_005264328.1:p.Lys1141PhefsTer29
XM_011532798.1:c.3534_3550del (MSH6)	XP_011531100.1:p.Lys1179PhefsTer29
XM_011532799.1:c.3420_3436del (MSH6)	XP_011531101.1:p.Lys1141PhefsTer29
XM_011532800.1:c.3420_3436del (MSH6)	XP_011531102.1:p.Lys1141PhefsTer29
XM_024452819.1:c.3717_3733del (MSH6)	XP_024308587.1:p.Lys1240PhefsTer?
XM_024452820.1:c.3534_3550del (MSH6)	XP_024308588.1:p.Lys1179PhefsTer?
XM_024452821.1:c.3420_3436del (MSH6)	XP_024308589.1:p.Lys1141PhefsTer?
XM_024452822.1:c.2811_2827del (MSH6)	XP_024308590.1:p.Lys938PhefsTer?
NM_000179.3:c.3717_3733del (MSH6) MANE Select	NP_000170.1:p.Lys1240PhefsTer29
NM_001281492.2:c.3327_3343del (MSH6)	NP_001268421.1:p.Lys1110PhefsTer29
NM_001281493.2:c.2811_2827del (MSH6)	NP_001268422.1:p.Lys938PhefsTer29
NM_001281494.2:c.2811_2827del (MSH6)	NP_001268423.1:p.Lys938PhefsTer29