Canonical Allele Identifier: CA1139656976

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 928745
• ClinVar RCV Id: RCV001193099 ; RCV003478727 ; RCV003449625 ; RCV003759028
• dbSNP Id: rs1670054668

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806290_47806296dup , CM000664.2:g.47806290_47806296dup	GRCh38
NC_000002.11:g.48033429_48033435dup , CM000664.1:g.48033429_48033435dup	GRCh37
NC_000002.10:g.47886933_47886939dup	NCBI36
NG_007111.1:g.28144_28150dup , LRG_219:g.28144_28150dup
NG_008397.1:g.104381_104387dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3436_3442dup (MSH6)	ENSP00000406248.2:p.Thr1148IlefsTer30
ENST00000420813.6:c.3436_3442dup (MSH6)	ENSP00000390382.2:p.Thr1148IlefsTer30
ENST00000455383.6:c.3436_3442dup (MSH6)	ENSP00000397484.2:p.Thr1148IlefsTer30
ENST00000700004.2:c.3349_3355dup (MSH6)	ENSP00000514752.2:p.Thr1119IlefsTer30
ENST00000699999.1:n.4407_4413dup (MSH6)
ENST00000700000.1:c.2167_2173dup (MSH6)	ENSP00000514749.1:p.Thr725IlefsTer30
ENST00000700002.1:c.3739_3745dup (MSH6)	ENSP00000514750.1:p.Thr1249IlefsTer30
ENST00000700003.1:c.1188_1194dup (MSH6)	ENSP00000514751.1:n.1188_1194dup
ENST00000700004.1:c.2506_2512dup (MSH6)	ENSP00000514752.1:p.Thr838IlefsTer30
ENST00000700005.1:n.2584_2590dup (MSH6)
ENST00000700006.1:n.4891_4897dup (MSH6)
ENST00000700007.1:n.2328_2334dup (MSH6)
ENST00000700008.1:n.1902_1908dup (MSH6)
ENST00000700009.1:n.2397_2403dup (MSH6)
ENST00000700010.1:n.1142_1148dup (MSH6)
ENST00000700011.1:n.3027_3033dup (MSH6)
ENST00000682451.1:n.4453_4459dup (FBXO11)
ENST00000684712.1:n.4715_4721dup (FBXO11)
ENST00000234420.11:c.3733_3739dup (MSH6) MANE Select	ENSP00000234420.5:p.Thr1247IlefsTer30
ENST00000540021.6:c.3343_3349dup (MSH6)	ENSP00000446475.1:p.Thr1117IlefsTer30
ENST00000652107.1:c.3436_3442dup (MSH6)	ENSP00000498629.1:p.Thr1148IlefsTer30
ENST00000673637.1:c.3436_3442dup (MSH6)	ENSP00000501310.1:p.Thr1148IlefsTer30
ENST00000234420.9:c.3733_3739dup (MSH6)	ENSP00000234420.4:p.Thr1247IlefsTer30
ENST00000405808.5:c.169+1900_169+1906dup (FBXO11)	ENSP00000385127.1:n.169+1900_169+1906dup
ENST00000434234.5:c.*124+1699_*124+1705dup (FBXO11)	ENSP00000402692.1:n.*124+1699_*124+1705dup
ENST00000445503.5:c.*3080_*3086dup (MSH6)	ENSP00000405294.1:n.*3080_*3086dup
ENST00000538136.1:c.2827_2833dup (MSH6)	ENSP00000438580.1:p.Thr945IlefsTer30
ENST00000540021.5:c.3343_3349dup (MSH6)	ENSP00000446475.1:p.Thr1117IlefsTer30
ENST00000614496.4:c.2827_2833dup (MSH6)	ENSP00000477844.1:p.Thr945IlefsTer30
ENST00000622629.4:c.637_643dup (MSH6)	ENSP00000482078.1:p.Thr215IlefsTer8
NM_000179.2:c.3733_3739dup , LRG_219t1:c.3733_3739dup (MSH6)	NP_000170.1:p.Thr1247IlefsTer30
NM_001281492.1:c.3343_3349dup (MSH6)	NP_001268421.1:p.Thr1117IlefsTer30
NM_001281493.1:c.2827_2833dup (MSH6)	NP_001268422.1:p.Thr945IlefsTer30
NM_001281494.1:c.2827_2833dup (MSH6)	NP_001268423.1:p.Thr945IlefsTer30
XM_005264271.1:c.3436_3442dup (MSH6)	XP_005264328.1:p.Thr1148IlefsTer30
XM_011532798.1:c.3550_3556dup (MSH6)	XP_011531100.1:p.Thr1186IlefsTer30
XM_011532799.1:c.3436_3442dup (MSH6)	XP_011531101.1:p.Thr1148IlefsTer30
XM_011532800.1:c.3436_3442dup (MSH6)	XP_011531102.1:p.Thr1148IlefsTer30
XM_024452819.1:c.3733_3739dup (MSH6)	XP_024308587.1:p.Thr1247IlefsTer?
XM_024452820.1:c.3550_3556dup (MSH6)	XP_024308588.1:p.Thr1186IlefsTer?
XM_024452821.1:c.3436_3442dup (MSH6)	XP_024308589.1:p.Thr1148IlefsTer?
XM_024452822.1:c.2827_2833dup (MSH6)	XP_024308590.1:p.Thr945IlefsTer?
NM_000179.3:c.3733_3739dup (MSH6) MANE Select	NP_000170.1:p.Thr1247IlefsTer30
NM_001281492.2:c.3343_3349dup (MSH6)	NP_001268421.1:p.Thr1117IlefsTer30
NM_001281493.2:c.2827_2833dup (MSH6)	NP_001268422.1:p.Thr945IlefsTer30
NM_001281494.2:c.2827_2833dup (MSH6)	NP_001268423.1:p.Thr945IlefsTer30