Canonical Allele Identifier: CA2580067689

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1779438
• ClinVar RCV Id: RCV002401594

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799737_47799738delinsCT , CM000664.2:g.47799737_47799738delinsCT	GRCh38
NC_000002.11:g.48026876_48026877delinsCT , CM000664.1:g.48026876_48026877delinsCT	GRCh37
NC_000002.10:g.47880380_47880381delinsCT	NCBI36
NG_007111.1:g.21591_21592delinsCT , LRG_219:g.21591_21592delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1457_1458delinsCT (MSH6)	ENSP00000406248.2:p.Leu486Pro
ENST00000420813.6:c.1457_1458delinsCT (MSH6)	ENSP00000390382.2:p.Leu486Pro
ENST00000455383.6:c.1457_1458delinsCT (MSH6)	ENSP00000397484.2:p.Leu486Pro
ENST00000700004.2:c.1754_1755delinsCT (MSH6)	ENSP00000514752.2:p.Leu585Pro
ENST00000699999.1:n.1838_1839delinsCT (MSH6)
ENST00000700000.1:c.1606+148_1606+149delinsCT (MSH6)	ENSP00000514749.1:n.1606+148_1606+149delinsCT
ENST00000700002.1:c.1760_1761delinsCT (MSH6)	ENSP00000514750.1:p.Leu587Pro
ENST00000700003.1:c.627+3674_627+3675delinsCT (MSH6)	ENSP00000514751.1:n.627+3674_627+3675delinsCT
ENST00000700004.1:c.911_912delinsCT (MSH6)	ENSP00000514752.1:p.Leu304Pro
ENST00000234420.11:c.1754_1755delinsCT (MSH6) MANE Select	ENSP00000234420.5:p.Leu585Pro
ENST00000540021.6:c.1364_1365delinsCT (MSH6)	ENSP00000446475.1:p.Leu455Pro
ENST00000652107.1:c.1457_1458delinsCT (MSH6)	ENSP00000498629.1:p.Leu486Pro
ENST00000673637.1:c.1457_1458delinsCT (MSH6)	ENSP00000501310.1:p.Leu486Pro
ENST00000234420.9:c.1754_1755delinsCT (MSH6)	ENSP00000234420.4:p.Leu585Pro
ENST00000405808.5:c.169+8457_169+8458delinsAG (FBXO11)	ENSP00000385127.1:n.169+8457_169+8458delinsAG
ENST00000434234.5:c.*124+8256_*124+8257delinsAG (FBXO11)	ENSP00000402692.1:n.*124+8256_*124+8257delinsAG
ENST00000445503.5:c.*1101_*1102delinsCT (MSH6)	ENSP00000405294.1:n.*1101_*1102delinsCT
ENST00000538136.1:c.848_849delinsCT (MSH6)	ENSP00000438580.1:p.Leu283Pro
ENST00000540021.5:c.1364_1365delinsCT (MSH6)	ENSP00000446475.1:p.Leu455Pro
ENST00000614496.4:c.848_849delinsCT (MSH6)	ENSP00000477844.1:p.Leu283Pro
ENST00000616033.4:c.1751_1752delinsCT (MSH6)	ENSP00000480261.1:p.Leu584Pro
ENST00000622629.4:c.-1343_-1342delinsCT (MSH6)	ENSP00000482078.1:n.-1343_-1342delinsCT
NM_000179.2:c.1754_1755delinsCT , LRG_219t1:c.1754_1755delinsCT (MSH6)	NP_000170.1:p.Leu585Pro
NM_001281492.1:c.1364_1365delinsCT (MSH6)	NP_001268421.1:p.Leu455Pro
NM_001281493.1:c.848_849delinsCT (MSH6)	NP_001268422.1:p.Leu283Pro
NM_001281494.1:c.848_849delinsCT (MSH6)	NP_001268423.1:p.Leu283Pro
XM_005264271.1:c.1457_1458delinsCT (MSH6)	XP_005264328.1:p.Leu486Pro
XM_011532798.1:c.1571_1572delinsCT (MSH6)	XP_011531100.1:p.Leu524Pro
XM_011532799.1:c.1457_1458delinsCT (MSH6)	XP_011531101.1:p.Leu486Pro
XM_011532800.1:c.1457_1458delinsCT (MSH6)	XP_011531102.1:p.Leu486Pro
XM_024452819.1:c.1754_1755delinsCT (MSH6)	XP_024308587.1:p.Leu585Pro
XM_024452820.1:c.1571_1572delinsCT (MSH6)	XP_024308588.1:p.Leu524Pro
XM_024452821.1:c.1457_1458delinsCT (MSH6)	XP_024308589.1:p.Leu486Pro
XM_024452822.1:c.848_849delinsCT (MSH6)	XP_024308590.1:p.Leu283Pro
NM_000179.3:c.1754_1755delinsCT (MSH6) MANE Select	NP_000170.1:p.Leu585Pro
NM_001281492.2:c.1364_1365delinsCT (MSH6)	NP_001268421.1:p.Leu455Pro
NM_001281493.2:c.848_849delinsCT (MSH6)	NP_001268422.1:p.Leu283Pro
NM_001281494.2:c.848_849delinsCT (MSH6)	NP_001268423.1:p.Leu283Pro