Canonical Allele Identifier: CA915943931

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 821265
• ClinVar RCV Id: RCV001015509
• dbSNP Id: rs1572727163

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800413_47800423del , CM000664.2:g.47800413_47800423del	GRCh38
NC_000002.11:g.48027552_48027562del , CM000664.1:g.48027552_48027562del	GRCh37
NC_000002.10:g.47881056_47881066del	NCBI36
NG_007111.1:g.22267_22277del , LRG_219:g.22267_22277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2133_2143del (MSH6)	ENSP00000406248.2:p.Leu712AlafsTer5
ENST00000420813.6:c.2133_2143del (MSH6)	ENSP00000390382.2:p.Leu712AlafsTer5
ENST00000455383.6:c.2133_2143del (MSH6)	ENSP00000397484.2:p.Leu712AlafsTer5
ENST00000700004.2:c.2430_2440del (MSH6)	ENSP00000514752.2:p.Leu811AlafsTer5
ENST00000699999.1:n.2514_2524del (MSH6)
ENST00000700000.1:c.1606+824_1606+834del (MSH6)	ENSP00000514749.1:n.1606+824_1606+834del
ENST00000700002.1:c.2436_2446del (MSH6)	ENSP00000514750.1:p.Leu813AlafsTer5
ENST00000700003.1:c.628-3007_628-2997del (MSH6)	ENSP00000514751.1:n.628-3007_628-2997del
ENST00000700004.1:c.1587_1597del (MSH6)	ENSP00000514752.1:p.Leu530AlafsTer5
ENST00000234420.11:c.2430_2440del (MSH6) MANE Select	ENSP00000234420.5:p.Leu811AlafsTer5
ENST00000540021.6:c.2040_2050del (MSH6)	ENSP00000446475.1:p.Leu681AlafsTer5
ENST00000652107.1:c.2133_2143del (MSH6)	ENSP00000498629.1:p.Leu712AlafsTer5
ENST00000673637.1:c.2133_2143del (MSH6)	ENSP00000501310.1:p.Leu712AlafsTer5
ENST00000234420.9:c.2430_2440del (MSH6)	ENSP00000234420.4:p.Leu811AlafsTer5
ENST00000405808.5:c.169+7775_169+7785del (FBXO11)	ENSP00000385127.1:n.169+7775_169+7785del
ENST00000434234.5:c.*124+7574_*124+7584del (FBXO11)	ENSP00000402692.1:n.*124+7574_*124+7584del
ENST00000445503.5:c.*1777_*1787del (MSH6)	ENSP00000405294.1:n.*1777_*1787del
ENST00000538136.1:c.1524_1534del (MSH6)	ENSP00000438580.1:p.Leu509AlafsTer5
ENST00000540021.5:c.2040_2050del (MSH6)	ENSP00000446475.1:p.Leu681AlafsTer5
ENST00000614496.4:c.1524_1534del (MSH6)	ENSP00000477844.1:p.Leu509AlafsTer5
ENST00000616033.4:c.2427_2437del (MSH6)	ENSP00000480261.1:p.Leu810AlafsTer5
ENST00000622629.4:c.-667_-657del (MSH6)	ENSP00000482078.1:n.-667_-657del
NM_000179.2:c.2430_2440del , LRG_219t1:c.2430_2440del (MSH6)	NP_000170.1:p.Leu811AlafsTer5
NM_001281492.1:c.2040_2050del (MSH6)	NP_001268421.1:p.Leu681AlafsTer5
NM_001281493.1:c.1524_1534del (MSH6)	NP_001268422.1:p.Leu509AlafsTer5
NM_001281494.1:c.1524_1534del (MSH6)	NP_001268423.1:p.Leu509AlafsTer5
XM_005264271.1:c.2133_2143del (MSH6)	XP_005264328.1:p.Leu712AlafsTer5
XM_011532798.1:c.2247_2257del (MSH6)	XP_011531100.1:p.Leu750AlafsTer5
XM_011532799.1:c.2133_2143del (MSH6)	XP_011531101.1:p.Leu712AlafsTer5
XM_011532800.1:c.2133_2143del (MSH6)	XP_011531102.1:p.Leu712AlafsTer5
XM_024452819.1:c.2430_2440del (MSH6)	XP_024308587.1:p.Leu811AlafsTer5
XM_024452820.1:c.2247_2257del (MSH6)	XP_024308588.1:p.Leu750AlafsTer5
XM_024452821.1:c.2133_2143del (MSH6)	XP_024308589.1:p.Leu712AlafsTer5
XM_024452822.1:c.1524_1534del (MSH6)	XP_024308590.1:p.Leu509AlafsTer5
NM_000179.3:c.2430_2440del (MSH6) MANE Select	NP_000170.1:p.Leu811AlafsTer5
NM_001281492.2:c.2040_2050del (MSH6)	NP_001268421.1:p.Leu681AlafsTer5
NM_001281493.2:c.1524_1534del (MSH6)	NP_001268422.1:p.Leu509AlafsTer5
NM_001281494.2:c.1524_1534del (MSH6)	NP_001268423.1:p.Leu509AlafsTer5