Canonical Allele Identifier: CA2580067445

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1736018
• ClinVar RCV Id: RCV002357464

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806550_47806561dup , CM000664.2:g.47806550_47806561dup	GRCh38
NC_000002.11:g.48033689_48033700dup , CM000664.1:g.48033689_48033700dup	GRCh37
NC_000002.10:g.47887193_47887204dup	NCBI36
NG_007111.1:g.28404_28415dup , LRG_219:g.28404_28415dup
NG_008397.1:g.104115_104126dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3603_3614dup (MSH6)	ENSP00000406248.2:p.Ala1204_Arg1205insSerAsnAlaAla
ENST00000420813.6:c.3603_3614dup (MSH6)	ENSP00000390382.2:p.Ala1204_Arg1205insSerAsnAlaAla
ENST00000455383.6:c.3603_3614dup (MSH6)	ENSP00000397484.2:p.Ala1204_Arg1205insSerAsnAlaAla
ENST00000700004.2:c.3516_3527dup (MSH6)	ENSP00000514752.2:p.Ala1175_Arg1176insSerAsnAlaAla
ENST00000699999.1:n.4574_4585dup (MSH6)
ENST00000700000.1:c.2334_2345dup (MSH6)	ENSP00000514749.1:p.Ala781_Arg782insSerAsnAlaAla
ENST00000700002.1:c.3906_3917dup (MSH6)	ENSP00000514750.1:p.Ala1305_Arg1306insSerAsnAlaAla
ENST00000700003.1:c.1355_1366dup (MSH6)	ENSP00000514751.1:n.1355_1366dup
ENST00000700004.1:c.2673_2684dup (MSH6)	ENSP00000514752.1:p.Ala894_Arg895insSerAsnAlaAla
ENST00000700005.1:n.2751_2762dup (MSH6)
ENST00000700006.1:n.5058_5069dup (MSH6)
ENST00000700007.1:n.2495_2506dup (MSH6)
ENST00000700008.1:n.2162_2173dup (MSH6)
ENST00000700009.1:n.2564_2575dup (MSH6)
ENST00000700010.1:n.1309_1320dup (MSH6)
ENST00000700011.1:n.3194_3205dup (MSH6)
ENST00000682451.1:n.4187_4198dup (FBXO11)
ENST00000684712.1:n.4449_4460dup (FBXO11)
ENST00000234420.11:c.3900_3911dup (MSH6) MANE Select	ENSP00000234420.5:p.Ala1303_Arg1304insSerAsnAlaAla
ENST00000540021.6:c.3510_3521dup (MSH6)	ENSP00000446475.1:p.Ala1173_Arg1174insSerAsnAlaAla
ENST00000652107.1:c.3603_3614dup (MSH6)	ENSP00000498629.1:p.Ala1204_Arg1205insSerAsnAlaAla
ENST00000673637.1:c.3603_3614dup (MSH6)	ENSP00000501310.1:p.Ala1204_Arg1205insSerAsnAlaAla
ENST00000234420.9:c.3900_3911dup (MSH6)	ENSP00000234420.4:p.Ala1303_Arg1304insSerAsnAlaAla
ENST00000405808.5:c.169+1634_169+1645dup (FBXO11)	ENSP00000385127.1:n.169+1634_169+1645dup
ENST00000434234.5:c.*124+1433_*124+1444dup (FBXO11)	ENSP00000402692.1:n.*124+1433_*124+1444dup
ENST00000445503.5:c.*3247_*3258dup (MSH6)	ENSP00000405294.1:n.*3247_*3258dup
ENST00000538136.1:c.2994_3005dup (MSH6)	ENSP00000438580.1:p.Ala1001_Arg1002insSerAsnAlaAla
ENST00000540021.5:c.3510_3521dup (MSH6)	ENSP00000446475.1:p.Ala1173_Arg1174insSerAsnAlaAla
ENST00000614496.4:c.2994_3005dup (MSH6)	ENSP00000477844.1:p.Ala1001_Arg1002insSerAsnAlaAla
ENST00000622629.4:c.801_812dup (MSH6)	ENSP00000482078.1:p.Ala270_Arg271insSerAsnAlaAla
NM_000179.2:c.3900_3911dup , LRG_219t1:c.3900_3911dup (MSH6)	NP_000170.1:p.Ala1303_Arg1304insSerAsnAlaAla
NM_001281492.1:c.3510_3521dup (MSH6)	NP_001268421.1:p.Ala1173_Arg1174insSerAsnAlaAla
NM_001281493.1:c.2994_3005dup (MSH6)	NP_001268422.1:p.Ala1001_Arg1002insSerAsnAlaAla
NM_001281494.1:c.2994_3005dup (MSH6)	NP_001268423.1:p.Ala1001_Arg1002insSerAsnAlaAla
XM_005264271.1:c.3603_3614dup (MSH6)	XP_005264328.1:p.Ala1204_Arg1205insSerAsnAlaAla
XM_011532798.1:c.3717_3728dup (MSH6)	XP_011531100.1:p.Ala1242_Arg1243insSerAsnAlaAla
XM_011532799.1:c.3603_3614dup (MSH6)	XP_011531101.1:p.Ala1204_Arg1205insSerAsnAlaAla
XM_011532800.1:c.3603_3614dup (MSH6)	XP_011531102.1:p.Ala1204_Arg1205insSerAsnAlaAla
XM_024452819.1:c.3993_4004dup (MSH6)	XP_024308587.1:p.Ala1334_Arg1335insSerAsnAlaAla
XM_024452820.1:c.3810_3821dup (MSH6)	XP_024308588.1:p.Ala1273_Arg1274insSerAsnAlaAla
XM_024452821.1:c.3696_3707dup (MSH6)	XP_024308589.1:p.Ala1235_Arg1236insSerAsnAlaAla
XM_024452822.1:c.3087_3098dup (MSH6)	XP_024308590.1:p.Ala1032_Arg1033insSerAsnAlaAla
NM_000179.3:c.3900_3911dup (MSH6) MANE Select	NP_000170.1:p.Ala1303_Arg1304insSerAsnAlaAla
NM_001281492.2:c.3510_3521dup (MSH6)	NP_001268421.1:p.Ala1173_Arg1174insSerAsnAlaAla
NM_001281493.2:c.2994_3005dup (MSH6)	NP_001268422.1:p.Ala1001_Arg1002insSerAsnAlaAla
NM_001281494.2:c.2994_3005dup (MSH6)	NP_001268423.1:p.Ala1001_Arg1002insSerAsnAlaAla