Canonical Allele Identifier: CA915943992

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 646779
• ClinVar RCV Id: RCV000801136 ; RCV002352360
• dbSNP Id: rs1572750047

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806804_47806805del , CM000664.2:g.47806804_47806805del	GRCh38
NC_000002.11:g.48033943_48033944del , CM000664.1:g.48033943_48033944del	GRCh37
NC_000002.10:g.47887447_47887448del	NCBI36
NG_007111.1:g.28658_28659del , LRG_219:g.28658_28659del
NG_008397.1:g.103871_103872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3730_3731del (MSH6)	ENSP00000406248.2:p.Ser1244AsnfsTer5
ENST00000420813.6:c.3730_3731del (MSH6)	ENSP00000390382.2:p.Ser1244AsnfsTer5
ENST00000455383.6:c.3730_3731del (MSH6)	ENSP00000397484.2:p.Ser1244AsnfsTer5
ENST00000700004.2:c.3643_3644del (MSH6)	ENSP00000514752.2:p.Ser1215AsnfsTer5
ENST00000699999.1:n.4701_4702del (MSH6)
ENST00000700000.1:c.2461_2462del (MSH6)	ENSP00000514749.1:p.Ser821AsnfsTer5
ENST00000700002.1:c.4033_4034del (MSH6)	ENSP00000514750.1:p.Ser1345AsnfsTer5
ENST00000700003.1:c.1482_1483del (MSH6)	ENSP00000514751.1:n.1482_1483del
ENST00000700004.1:c.2800_2801del (MSH6)	ENSP00000514752.1:p.Ser934AsnfsTer5
ENST00000700005.1:n.3005_3006del (MSH6)
ENST00000700007.1:n.2622_2623del (MSH6)
ENST00000700008.1:n.2289_2290del (MSH6)
ENST00000700009.1:n.2691_2692del (MSH6)
ENST00000700010.1:n.1436_1437del (MSH6)
ENST00000700011.1:n.3321_3322del (MSH6)
ENST00000682451.1:n.3943_3944del (FBXO11)
ENST00000684712.1:n.4205_4206del (FBXO11)
ENST00000234420.11:c.4027_4028del (MSH6) MANE Select	ENSP00000234420.5:p.Ser1343AsnfsTer5
ENST00000540021.6:c.3637_3638del (MSH6)	ENSP00000446475.1:p.Ser1213AsnfsTer5
ENST00000652107.1:c.3730_3731del (MSH6)	ENSP00000498629.1:p.Ser1244AsnfsTer5
ENST00000673637.1:c.3730_3731del (MSH6)	ENSP00000501310.1:p.Ser1244AsnfsTer5
ENST00000234420.9:c.4027_4028del (MSH6)	ENSP00000234420.4:p.Ser1343AsnfsTer5
ENST00000405808.5:c.169+1390_169+1391del (FBXO11)	ENSP00000385127.1:n.169+1390_169+1391del
ENST00000434234.5:c.*124+1189_*124+1190del (FBXO11)	ENSP00000402692.1:n.*124+1189_*124+1190del
ENST00000445503.5:c.*3374_*3375del (MSH6)	ENSP00000405294.1:n.*3374_*3375del
ENST00000465204.5:n.3105_3106del (FBXO11)
ENST00000538136.1:c.3121_3122del (MSH6)	ENSP00000438580.1:p.Ser1041AsnfsTer5
ENST00000540021.5:c.3637_3638del (MSH6)	ENSP00000446475.1:p.Ser1213AsnfsTer5
ENST00000614496.4:c.3121_3122del (MSH6)	ENSP00000477844.1:p.Ser1041AsnfsTer5
ENST00000622629.4:c.928_929del (MSH6)	ENSP00000482078.1:p.Ser310AsnfsTer5
NM_000179.2:c.4027_4028del , LRG_219t1:c.4027_4028del (MSH6)	NP_000170.1:p.Ser1343AsnfsTer5
NM_001281492.1:c.3637_3638del (MSH6)	NP_001268421.1:p.Ser1213AsnfsTer5
NM_001281493.1:c.3121_3122del (MSH6)	NP_001268422.1:p.Ser1041AsnfsTer5
NM_001281494.1:c.3121_3122del (MSH6)	NP_001268423.1:p.Ser1041AsnfsTer5
XM_005264271.1:c.3730_3731del (MSH6)	XP_005264328.1:p.Ser1244AsnfsTer5
XM_011532798.1:c.3844_3845del (MSH6)	XP_011531100.1:p.Ser1282AsnfsTer5
XM_011532799.1:c.3730_3731del (MSH6)	XP_011531101.1:p.Ser1244AsnfsTer5
XM_011532800.1:c.3730_3731del (MSH6)	XP_011531102.1:p.Ser1244AsnfsTer5
XM_024452819.1:c.4120_4121del (MSH6)	XP_024308587.1:p.Ser1374AsnfsTer5
XM_024452820.1:c.3937_3938del (MSH6)	XP_024308588.1:p.Ser1313AsnfsTer5
XM_024452821.1:c.3823_3824del (MSH6)	XP_024308589.1:p.Ser1275AsnfsTer5
XM_024452822.1:c.3214_3215del (MSH6)	XP_024308590.1:p.Ser1072AsnfsTer5
NM_000179.3:c.4027_4028del (MSH6) MANE Select	NP_000170.1:p.Ser1343AsnfsTer5
NM_001281492.2:c.3637_3638del (MSH6)	NP_001268421.1:p.Ser1213AsnfsTer5
NM_001281493.2:c.3121_3122del (MSH6)	NP_001268422.1:p.Ser1041AsnfsTer5
NM_001281494.2:c.3121_3122del (MSH6)	NP_001268423.1:p.Ser1041AsnfsTer5