Canonical Allele Identifier: CA10582058

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 237145
• ClinVar RCV Id: RCV000226342 ; RCV001328436 ; RCV001782720 ; RCV003454688 ; RCV003765456
• dbSNP Id: rs878853711
• MyVariant Identifiers: chr2:g.48027178_48027182delinsCTTCTACCTCAAAAA (hg19) ; chr2:g.47800039_47800043delinsCTTCTACCTCAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800039_47800043delinsCTTCTACCTCAAAAA , CM000664.2:g.47800039_47800043delinsCTTCTACCTCAAAAA	GRCh38
NC_000002.11:g.48027178_48027182delinsCTTCTACCTCAAAAA , CM000664.1:g.48027178_48027182delinsCTTCTACCTCAAAAA	GRCh37
NC_000002.10:g.47880682_47880686delinsCTTCTACCTCAAAAA	NCBI36
NG_007111.1:g.21893_21897delinsCTTCTACCTCAAAAA , LRG_219:g.21893_21897delinsCTTCTACCTCAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1759_1763delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000406248.2:p.Gly587LeufsTer15
ENST00000420813.6:c.1759_1763delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000390382.2:p.Gly587LeufsTer15
ENST00000455383.6:c.1759_1763delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000397484.2:p.Gly587LeufsTer15
ENST00000700004.2:c.2056_2060delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000514752.2:p.Gly686LeufsTer15
ENST00000699999.1:n.2140_2144delinsCTTCTACCTCAAAAA (MSH6)
ENST00000700000.1:c.1606+450_1606+454delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000514749.1:n.1606+450_1606+454delinsCTTCTACCTCAAAAA
ENST00000700002.1:c.2062_2066delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000514750.1:p.Gly688LeufsTer15
ENST00000700003.1:c.628-3381_628-3377delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000514751.1:n.628-3381_628-3377delinsCTTCTACCTCAAAAA
ENST00000700004.1:c.1213_1217delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000514752.1:p.Gly405LeufsTer15
ENST00000234420.11:c.2056_2060delinsCTTCTACCTCAAAAA (MSH6) MANE Select	ENSP00000234420.5:p.Gly686LeufsTer15
ENST00000540021.6:c.1666_1670delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000446475.1:p.Gly556LeufsTer15
ENST00000652107.1:c.1759_1763delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000498629.1:p.Gly587LeufsTer15
ENST00000673637.1:c.1759_1763delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000501310.1:p.Gly587LeufsTer15
ENST00000234420.9:c.2056_2060delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000234420.4:p.Gly686LeufsTer15
ENST00000405808.5:c.169+8152_169+8156delinsTTTTTGAGGTAGAAG (FBXO11)	ENSP00000385127.1:n.169+8152_169+8156delinsTTTTTGAGGTAGAAG
ENST00000434234.5:c.*124+7951_*124+7955delinsTTTTTGAGGTAGAAG (FBXO11)	ENSP00000402692.1:n.*124+7951_*124+7955delinsTTTTTGAGGTAGAAG
ENST00000445503.5:c.*1403_*1407delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000405294.1:n.*1403_*1407delinsCTTCTACCTCAAAAA
ENST00000538136.1:c.1150_1154delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000438580.1:p.Gly384LeufsTer15
ENST00000540021.5:c.1666_1670delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000446475.1:p.Gly556LeufsTer15
ENST00000614496.4:c.1150_1154delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000477844.1:p.Gly384LeufsTer15
ENST00000616033.4:c.2053_2057delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000480261.1:p.Gly685LeufsTer15
ENST00000622629.4:c.-1041_-1037delinsCTTCTACCTCAAAAA (MSH6)	ENSP00000482078.1:n.-1041_-1037delinsCTTCTACCTCAAAAA
NM_000179.2:c.2056_2060delinsCTTCTACCTCAAAAA , LRG_219t1:c.2056_2060delinsCTTCTACCTCAAAAA (MSH6)	NP_000170.1:p.Gly686LeufsTer15
NM_001281492.1:c.1666_1670delinsCTTCTACCTCAAAAA (MSH6)	NP_001268421.1:p.Gly556LeufsTer15
NM_001281493.1:c.1150_1154delinsCTTCTACCTCAAAAA (MSH6)	NP_001268422.1:p.Gly384LeufsTer15
NM_001281494.1:c.1150_1154delinsCTTCTACCTCAAAAA (MSH6)	NP_001268423.1:p.Gly384LeufsTer15
XM_005264271.1:c.1759_1763delinsCTTCTACCTCAAAAA (MSH6)	XP_005264328.1:p.Gly587LeufsTer15
XM_011532798.1:c.1873_1877delinsCTTCTACCTCAAAAA (MSH6)	XP_011531100.1:p.Gly625LeufsTer15
XM_011532799.1:c.1759_1763delinsCTTCTACCTCAAAAA (MSH6)	XP_011531101.1:p.Gly587LeufsTer15
XM_011532800.1:c.1759_1763delinsCTTCTACCTCAAAAA (MSH6)	XP_011531102.1:p.Gly587LeufsTer15
XM_024452819.1:c.2056_2060delinsCTTCTACCTCAAAAA (MSH6)	XP_024308587.1:p.Gly686LeufsTer15
XM_024452820.1:c.1873_1877delinsCTTCTACCTCAAAAA (MSH6)	XP_024308588.1:p.Gly625LeufsTer15
XM_024452821.1:c.1759_1763delinsCTTCTACCTCAAAAA (MSH6)	XP_024308589.1:p.Gly587LeufsTer15
XM_024452822.1:c.1150_1154delinsCTTCTACCTCAAAAA (MSH6)	XP_024308590.1:p.Gly384LeufsTer15
NM_000179.3:c.2056_2060delinsCTTCTACCTCAAAAA (MSH6) MANE Select	NP_000170.1:p.Gly686LeufsTer15
NM_001281492.2:c.1666_1670delinsCTTCTACCTCAAAAA (MSH6)	NP_001268421.1:p.Gly556LeufsTer15
NM_001281493.2:c.1150_1154delinsCTTCTACCTCAAAAA (MSH6)	NP_001268422.1:p.Gly384LeufsTer15
NM_001281494.2:c.1150_1154delinsCTTCTACCTCAAAAA (MSH6)	NP_001268423.1:p.Gly384LeufsTer15