Canonical Allele Identifier: CA2580067326

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1878219
• ClinVar RCV Id: RCV002510272 ; RCV002569431

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806324_47806328dup , CM000664.2:g.47806324_47806328dup	GRCh38
NC_000002.11:g.48033463_48033467dup , CM000664.1:g.48033463_48033467dup	GRCh37
NC_000002.10:g.47886967_47886971dup	NCBI36
NG_007111.1:g.28178_28182dup , LRG_219:g.28178_28182dup
NG_008397.1:g.104349_104353dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3470_3474dup (MSH6)	ENSP00000406248.2:p.Gln1159IlefsTer9
ENST00000420813.6:c.3470_3474dup (MSH6)	ENSP00000390382.2:p.Gln1159IlefsTer9
ENST00000455383.6:c.3470_3474dup (MSH6)	ENSP00000397484.2:p.Gln1159IlefsTer9
ENST00000700004.2:c.3383_3387dup (MSH6)	ENSP00000514752.2:p.Gln1130IlefsTer9
ENST00000699999.1:n.4441_4445dup (MSH6)
ENST00000700000.1:c.2201_2205dup (MSH6)	ENSP00000514749.1:p.Gln736IlefsTer9
ENST00000700002.1:c.3773_3777dup (MSH6)	ENSP00000514750.1:p.Gln1260IlefsTer9
ENST00000700003.1:c.1222_1226dup (MSH6)	ENSP00000514751.1:n.1222_1226dup
ENST00000700004.1:c.2540_2544dup (MSH6)	ENSP00000514752.1:p.Gln849IlefsTer9
ENST00000700005.1:n.2618_2622dup (MSH6)
ENST00000700006.1:n.4925_4929dup (MSH6)
ENST00000700007.1:n.2362_2366dup (MSH6)
ENST00000700008.1:n.1936_1940dup (MSH6)
ENST00000700009.1:n.2431_2435dup (MSH6)
ENST00000700010.1:n.1176_1180dup (MSH6)
ENST00000700011.1:n.3061_3065dup (MSH6)
ENST00000682451.1:n.4421_4425dup (FBXO11)
ENST00000684712.1:n.4683_4687dup (FBXO11)
ENST00000234420.11:c.3767_3771dup (MSH6) MANE Select	ENSP00000234420.5:p.Gln1258IlefsTer9
ENST00000540021.6:c.3377_3381dup (MSH6)	ENSP00000446475.1:p.Gln1128IlefsTer9
ENST00000652107.1:c.3470_3474dup (MSH6)	ENSP00000498629.1:p.Gln1159IlefsTer9
ENST00000673637.1:c.3470_3474dup (MSH6)	ENSP00000501310.1:p.Gln1159IlefsTer9
ENST00000234420.9:c.3767_3771dup (MSH6)	ENSP00000234420.4:p.Gln1258IlefsTer9
ENST00000405808.5:c.169+1868_169+1872dup (FBXO11)	ENSP00000385127.1:n.169+1868_169+1872dup
ENST00000434234.5:c.*124+1667_*124+1671dup (FBXO11)	ENSP00000402692.1:n.*124+1667_*124+1671dup
ENST00000445503.5:c.*3114_*3118dup (MSH6)	ENSP00000405294.1:n.*3114_*3118dup
ENST00000538136.1:c.2861_2865dup (MSH6)	ENSP00000438580.1:p.Gln956IlefsTer9
ENST00000540021.5:c.3377_3381dup (MSH6)	ENSP00000446475.1:p.Gln1128IlefsTer9
ENST00000614496.4:c.2861_2865dup (MSH6)	ENSP00000477844.1:p.Gln956IlefsTer9
ENST00000622629.4:c.669_673dup (MSH6)	ENSP00000482078.1:p.Ser225TyrfsTer9
NM_000179.2:c.3767_3771dup , LRG_219t1:c.3767_3771dup (MSH6)	NP_000170.1:p.Gln1258IlefsTer9
NM_001281492.1:c.3377_3381dup (MSH6)	NP_001268421.1:p.Gln1128IlefsTer9
NM_001281493.1:c.2861_2865dup (MSH6)	NP_001268422.1:p.Gln956IlefsTer9
NM_001281494.1:c.2861_2865dup (MSH6)	NP_001268423.1:p.Gln956IlefsTer9
XM_005264271.1:c.3470_3474dup (MSH6)	XP_005264328.1:p.Gln1159IlefsTer9
XM_011532798.1:c.3584_3588dup (MSH6)	XP_011531100.1:p.Gln1197IlefsTer9
XM_011532799.1:c.3470_3474dup (MSH6)	XP_011531101.1:p.Gln1159IlefsTer9
XM_011532800.1:c.3470_3474dup (MSH6)	XP_011531102.1:p.Gln1159IlefsTer9
XM_024452819.1:c.3767_3771dup (MSH6)	XP_024308587.1:p.Gln1258IlefsTer9
XM_024452820.1:c.3584_3588dup (MSH6)	XP_024308588.1:p.Gln1197IlefsTer9
XM_024452821.1:c.3470_3474dup (MSH6)	XP_024308589.1:p.Gln1159IlefsTer9
XM_024452822.1:c.2861_2865dup (MSH6)	XP_024308590.1:p.Gln956IlefsTer9
NM_000179.3:c.3767_3771dup (MSH6) MANE Select	NP_000170.1:p.Gln1258IlefsTer9
NM_001281492.2:c.3377_3381dup (MSH6)	NP_001268421.1:p.Gln1128IlefsTer9
NM_001281493.2:c.2861_2865dup (MSH6)	NP_001268422.1:p.Gln956IlefsTer9
NM_001281494.2:c.2861_2865dup (MSH6)	NP_001268423.1:p.Gln956IlefsTer9