Canonical Allele Identifier: CA915943983

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 824382
• ClinVar RCV Id: RCV001021441
• dbSNP Id: rs1572747272

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806570_47806572dup , CM000664.2:g.47806570_47806572dup	GRCh38
NC_000002.11:g.48033709_48033711dup , CM000664.1:g.48033709_48033711dup	GRCh37
NC_000002.10:g.47887213_47887215dup	NCBI36
NG_007111.1:g.28424_28426dup , LRG_219:g.28424_28426dup
NG_008397.1:g.104104_104106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3623_3625dup (MSH6)	ENSP00000406248.2:p.Asn1208_Leu1209insHis
ENST00000420813.6:c.3623_3625dup (MSH6)	ENSP00000390382.2:p.Asn1208_Leu1209insHis
ENST00000455383.6:c.3623_3625dup (MSH6)	ENSP00000397484.2:p.Asn1208_Leu1209insHis
ENST00000700004.2:c.3536_3538dup (MSH6)	ENSP00000514752.2:p.Asn1179_Leu1180insHis
ENST00000699999.1:n.4594_4596dup (MSH6)
ENST00000700000.1:c.2354_2356dup (MSH6)	ENSP00000514749.1:p.Asn785_Leu786insHis
ENST00000700002.1:c.3926_3928dup (MSH6)	ENSP00000514750.1:p.Asn1309_Leu1310insHis
ENST00000700003.1:c.1375_1377dup (MSH6)	ENSP00000514751.1:n.1375_1377dup
ENST00000700004.1:c.2693_2695dup (MSH6)	ENSP00000514752.1:p.Asn898_Leu899insHis
ENST00000700005.1:n.2771_2773dup (MSH6)
ENST00000700006.1:n.5078_5080dup (MSH6)
ENST00000700007.1:n.2515_2517dup (MSH6)
ENST00000700008.1:n.2182_2184dup (MSH6)
ENST00000700009.1:n.2584_2586dup (MSH6)
ENST00000700010.1:n.1329_1331dup (MSH6)
ENST00000700011.1:n.3214_3216dup (MSH6)
ENST00000682451.1:n.4176_4178dup (FBXO11)
ENST00000684712.1:n.4438_4440dup (FBXO11)
ENST00000234420.11:c.3920_3922dup (MSH6) MANE Select	ENSP00000234420.5:p.Asn1307_Leu1308insHis
ENST00000540021.6:c.3530_3532dup (MSH6)	ENSP00000446475.1:p.Asn1177_Leu1178insHis
ENST00000652107.1:c.3623_3625dup (MSH6)	ENSP00000498629.1:p.Asn1208_Leu1209insHis
ENST00000673637.1:c.3623_3625dup (MSH6)	ENSP00000501310.1:p.Asn1208_Leu1209insHis
ENST00000234420.9:c.3920_3922dup (MSH6)	ENSP00000234420.4:p.Asn1307_Leu1308insHis
ENST00000405808.5:c.169+1623_169+1625dup (FBXO11)	ENSP00000385127.1:n.169+1623_169+1625dup
ENST00000434234.5:c.*124+1422_*124+1424dup (FBXO11)	ENSP00000402692.1:n.*124+1422_*124+1424dup
ENST00000445503.5:c.*3267_*3269dup (MSH6)	ENSP00000405294.1:n.*3267_*3269dup
ENST00000538136.1:c.3014_3016dup (MSH6)	ENSP00000438580.1:p.Asn1005_Leu1006insHis
ENST00000540021.5:c.3530_3532dup (MSH6)	ENSP00000446475.1:p.Asn1177_Leu1178insHis
ENST00000614496.4:c.3014_3016dup (MSH6)	ENSP00000477844.1:p.Asn1005_Leu1006insHis
ENST00000622629.4:c.821_823dup (MSH6)	ENSP00000482078.1:p.Asn274_Leu275insHis
NM_000179.2:c.3920_3922dup , LRG_219t1:c.3920_3922dup (MSH6)	NP_000170.1:p.Asn1307_Leu1308insHis
NM_001281492.1:c.3530_3532dup (MSH6)	NP_001268421.1:p.Asn1177_Leu1178insHis
NM_001281493.1:c.3014_3016dup (MSH6)	NP_001268422.1:p.Asn1005_Leu1006insHis
NM_001281494.1:c.3014_3016dup (MSH6)	NP_001268423.1:p.Asn1005_Leu1006insHis
XM_005264271.1:c.3623_3625dup (MSH6)	XP_005264328.1:p.Asn1208_Leu1209insHis
XM_011532798.1:c.3737_3739dup (MSH6)	XP_011531100.1:p.Asn1246_Leu1247insHis
XM_011532799.1:c.3623_3625dup (MSH6)	XP_011531101.1:p.Asn1208_Leu1209insHis
XM_011532800.1:c.3623_3625dup (MSH6)	XP_011531102.1:p.Asn1208_Leu1209insHis
XM_024452819.1:c.4013_4015dup (MSH6)	XP_024308587.1:p.Asn1338_Leu1339insHis
XM_024452820.1:c.3830_3832dup (MSH6)	XP_024308588.1:p.Asn1277_Leu1278insHis
XM_024452821.1:c.3716_3718dup (MSH6)	XP_024308589.1:p.Asn1239_Leu1240insHis
XM_024452822.1:c.3107_3109dup (MSH6)	XP_024308590.1:p.Asn1036_Leu1037insHis
NM_000179.3:c.3920_3922dup (MSH6) MANE Select	NP_000170.1:p.Asn1307_Leu1308insHis
NM_001281492.2:c.3530_3532dup (MSH6)	NP_001268421.1:p.Asn1177_Leu1178insHis
NM_001281493.2:c.3014_3016dup (MSH6)	NP_001268422.1:p.Asn1005_Leu1006insHis
NM_001281494.2:c.3014_3016dup (MSH6)	NP_001268423.1:p.Asn1005_Leu1006insHis