Canonical Allele Identifier: CA645369295

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 428399
• ClinVar RCV Id: RCV000491228
• dbSNP Id: rs1553333540
• MyVariant Identifiers: chr2:g.48033685_48033706dup (hg19) ; chr2:g.47806546_47806567dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806546_47806567dup , CM000664.2:g.47806546_47806567dup	GRCh38
NC_000002.11:g.48033685_48033706dup , CM000664.1:g.48033685_48033706dup	GRCh37
NC_000002.10:g.47887189_47887210dup	NCBI36
NG_007111.1:g.28400_28421dup , LRG_219:g.28400_28421dup
NG_008397.1:g.104109_104130dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3599_3620dup (MSH6)	ENSP00000406248.2:p.Asn1208LeufsTer2
ENST00000420813.6:c.3599_3620dup (MSH6)	ENSP00000390382.2:p.Asn1208LeufsTer2
ENST00000455383.6:c.3599_3620dup (MSH6)	ENSP00000397484.2:p.Asn1208LeufsTer2
ENST00000700004.2:c.3512_3533dup (MSH6)	ENSP00000514752.2:p.Asn1179LeufsTer2
ENST00000699999.1:n.4570_4591dup (MSH6)
ENST00000700000.1:c.2330_2351dup (MSH6)	ENSP00000514749.1:p.Asn785LeufsTer2
ENST00000700002.1:c.3902_3923dup (MSH6)	ENSP00000514750.1:p.Asn1309LeufsTer2
ENST00000700003.1:c.1351_1372dup (MSH6)	ENSP00000514751.1:n.1351_1372dup
ENST00000700004.1:c.2669_2690dup (MSH6)	ENSP00000514752.1:p.Asn898LeufsTer2
ENST00000700005.1:n.2747_2768dup (MSH6)
ENST00000700006.1:n.5054_5075dup (MSH6)
ENST00000700007.1:n.2491_2512dup (MSH6)
ENST00000700008.1:n.2158_2179dup (MSH6)
ENST00000700009.1:n.2560_2581dup (MSH6)
ENST00000700010.1:n.1305_1326dup (MSH6)
ENST00000700011.1:n.3190_3211dup (MSH6)
ENST00000682451.1:n.4181_4202dup (FBXO11)
ENST00000684712.1:n.4443_4464dup (FBXO11)
ENST00000234420.11:c.3896_3917dup (MSH6) MANE Select	ENSP00000234420.5:p.Asn1307LeufsTer2
ENST00000540021.6:c.3506_3527dup (MSH6)	ENSP00000446475.1:p.Asn1177LeufsTer2
ENST00000652107.1:c.3599_3620dup (MSH6)	ENSP00000498629.1:p.Asn1208LeufsTer2
ENST00000673637.1:c.3599_3620dup (MSH6)	ENSP00000501310.1:p.Asn1208LeufsTer2
ENST00000234420.9:c.3896_3917dup (MSH6)	ENSP00000234420.4:p.Asn1307LeufsTer2
ENST00000405808.5:c.169+1628_169+1649dup (FBXO11)	ENSP00000385127.1:n.169+1628_169+1649dup
ENST00000434234.5:c.*124+1427_*124+1448dup (FBXO11)	ENSP00000402692.1:n.*124+1427_*124+1448dup
ENST00000445503.5:c.*3243_*3264dup (MSH6)	ENSP00000405294.1:n.*3243_*3264dup
ENST00000538136.1:c.2990_3011dup (MSH6)	ENSP00000438580.1:p.Asn1005LeufsTer2
ENST00000540021.5:c.3506_3527dup (MSH6)	ENSP00000446475.1:p.Asn1177LeufsTer2
ENST00000614496.4:c.2990_3011dup (MSH6)	ENSP00000477844.1:p.Asn1005LeufsTer2
ENST00000622629.4:c.797_818dup (MSH6)	ENSP00000482078.1:p.Asn274LeufsTer2
NM_000179.2:c.3896_3917dup , LRG_219t1:c.3896_3917dup (MSH6)	NP_000170.1:p.Asn1307LeufsTer2
NM_001281492.1:c.3506_3527dup (MSH6)	NP_001268421.1:p.Asn1177LeufsTer2
NM_001281493.1:c.2990_3011dup (MSH6)	NP_001268422.1:p.Asn1005LeufsTer2
NM_001281494.1:c.2990_3011dup (MSH6)	NP_001268423.1:p.Asn1005LeufsTer2
XM_005264271.1:c.3599_3620dup (MSH6)	XP_005264328.1:p.Asn1208LeufsTer2
XM_011532798.1:c.3713_3734dup (MSH6)	XP_011531100.1:p.Asn1246LeufsTer2
XM_011532799.1:c.3599_3620dup (MSH6)	XP_011531101.1:p.Asn1208LeufsTer2
XM_011532800.1:c.3599_3620dup (MSH6)	XP_011531102.1:p.Asn1208LeufsTer2
XM_024452819.1:c.3989_4010dup (MSH6)	XP_024308587.1:p.Asn1338LeufsTer2
XM_024452820.1:c.3806_3827dup (MSH6)	XP_024308588.1:p.Asn1277LeufsTer2
XM_024452821.1:c.3692_3713dup (MSH6)	XP_024308589.1:p.Asn1239LeufsTer2
XM_024452822.1:c.3083_3104dup (MSH6)	XP_024308590.1:p.Asn1036LeufsTer2
NM_000179.3:c.3896_3917dup (MSH6) MANE Select	NP_000170.1:p.Asn1307LeufsTer2
NM_001281492.2:c.3506_3527dup (MSH6)	NP_001268421.1:p.Asn1177LeufsTer2
NM_001281493.2:c.2990_3011dup (MSH6)	NP_001268422.1:p.Asn1005LeufsTer2
NM_001281494.2:c.2990_3011dup (MSH6)	NP_001268423.1:p.Asn1005LeufsTer2