Canonical Allele Identifier: CA10577279

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 234373
• ClinVar RCV Id: RCV000218952
• dbSNP Id: rs876660999
• MyVariant Identifiers: chr2:g.48027683_48027684del (hg19) ; chr2:g.47800544_47800545del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800545_47800546del , CM000664.2:g.47800545_47800546del	GRCh38
NC_000002.11:g.48027684_48027685del , CM000664.1:g.48027684_48027685del	GRCh37
NC_000002.10:g.47881188_47881189del	NCBI36
NG_007111.1:g.22399_22400del , LRG_219:g.22399_22400del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.2265_2266del (MSH6)	ENSP00000406248.2:p.Lys755AsnfsTer3
ENST00000420813.6:c.2265_2266del (MSH6)	ENSP00000390382.2:p.Lys755AsnfsTer3
ENST00000455383.6:c.2265_2266del (MSH6)	ENSP00000397484.2:p.Lys755AsnfsTer3
ENST00000700004.2:c.2562_2563del (MSH6)	ENSP00000514752.2:p.Lys854AsnfsTer3
ENST00000699999.1:n.2646_2647del (MSH6)
ENST00000700000.1:c.1606+956_1606+957del (MSH6)	ENSP00000514749.1:n.1606+956_1606+957del
ENST00000700002.1:c.2568_2569del (MSH6)	ENSP00000514750.1:p.Lys856AsnfsTer3
ENST00000700003.1:c.628-2875_628-2874del (MSH6)	ENSP00000514751.1:n.628-2875_628-2874del
ENST00000700004.1:c.1719_1720del (MSH6)	ENSP00000514752.1:p.Lys573AsnfsTer3
ENST00000234420.11:c.2562_2563del (MSH6) MANE Select	ENSP00000234420.5:p.Lys854AsnfsTer3
ENST00000540021.6:c.2172_2173del (MSH6)	ENSP00000446475.1:p.Lys724AsnfsTer3
ENST00000652107.1:c.2265_2266del (MSH6)	ENSP00000498629.1:p.Lys755AsnfsTer3
ENST00000673637.1:c.2265_2266del (MSH6)	ENSP00000501310.1:p.Lys755AsnfsTer3
ENST00000234420.9:c.2562_2563del (MSH6)	ENSP00000234420.4:p.Lys854AsnfsTer3
ENST00000405808.5:c.169+7650_169+7651del (FBXO11)	ENSP00000385127.1:n.169+7650_169+7651del
ENST00000434234.5:c.*124+7449_*124+7450del (FBXO11)	ENSP00000402692.1:n.*124+7449_*124+7450de...
ENST00000445503.5:c.*1909_*1910del (MSH6)	ENSP00000405294.1:n.*1909_*1910del
ENST00000538136.1:c.1656_1657del (MSH6)	ENSP00000438580.1:p.Lys552AsnfsTer3
ENST00000540021.5:c.2172_2173del (MSH6)	ENSP00000446475.1:p.Lys724AsnfsTer3
ENST00000614496.4:c.1656_1657del (MSH6)	ENSP00000477844.1:p.Lys552AsnfsTer3
ENST00000616033.4:c.2559_2560del (MSH6)	ENSP00000480261.1:p.Lys853AsnfsTer3
ENST00000622629.4:c.-535_-534del (MSH6)	ENSP00000482078.1:n.-535_-534del
NM_000179.2:c.2562_2563del , LRG_219t1:c.2562_2563del (MSH6)	NP_000170.1:p.Lys854AsnfsTer3
NM_001281492.1:c.2172_2173del (MSH6)	NP_001268421.1:p.Lys724AsnfsTer3
NM_001281493.1:c.1656_1657del (MSH6)	NP_001268422.1:p.Lys552AsnfsTer3
NM_001281494.1:c.1656_1657del (MSH6)	NP_001268423.1:p.Lys552AsnfsTer3
XM_005264271.1:c.2265_2266del (MSH6)	XP_005264328.1:p.Lys755AsnfsTer3
XM_011532798.1:c.2379_2380del (MSH6)	XP_011531100.1:p.Lys793AsnfsTer3
XM_011532799.1:c.2265_2266del (MSH6)	XP_011531101.1:p.Lys755AsnfsTer3
XM_011532800.1:c.2265_2266del (MSH6)	XP_011531102.1:p.Lys755AsnfsTer3
XM_024452819.1:c.2562_2563del (MSH6)	XP_024308587.1:p.Lys854AsnfsTer3
XM_024452820.1:c.2379_2380del (MSH6)	XP_024308588.1:p.Lys793AsnfsTer3
XM_024452821.1:c.2265_2266del (MSH6)	XP_024308589.1:p.Lys755AsnfsTer3
XM_024452822.1:c.1656_1657del (MSH6)	XP_024308590.1:p.Lys552AsnfsTer3
NM_000179.3:c.2562_2563del (MSH6) MANE Select	NP_000170.1:p.Lys854AsnfsTer3
NM_001281492.2:c.2172_2173del (MSH6)	NP_001268421.1:p.Lys724AsnfsTer3
NM_001281493.2:c.1656_1657del (MSH6)	NP_001268422.1:p.Lys552AsnfsTer3
NM_001281494.2:c.1656_1657del (MSH6)	NP_001268423.1:p.Lys552AsnfsTer3