Canonical Allele Identifier: CA915943918

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 819697
• ClinVar RCV Id: RCV001012474
• dbSNP Id: rs1572723719

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799610_47799612del , CM000664.2:g.47799610_47799612del	GRCh38
NC_000002.11:g.48026749_48026751del , CM000664.1:g.48026749_48026751del	GRCh37
NC_000002.10:g.47880253_47880255del	NCBI36
NG_007111.1:g.21464_21466del , LRG_219:g.21464_21466del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1330_1332del (MSH6)	ENSP00000406248.2:p.Lys444del
ENST00000420813.6:c.1330_1332del (MSH6)	ENSP00000390382.2:p.Lys444del
ENST00000455383.6:c.1330_1332del (MSH6)	ENSP00000397484.2:p.Lys444del
ENST00000700004.2:c.1627_1629del (MSH6)	ENSP00000514752.2:p.Lys543del
ENST00000699999.1:n.1711_1713del (MSH6)
ENST00000700000.1:c.1606+21_1606+23del (MSH6)	ENSP00000514749.1:n.1606+21_1606+23del
ENST00000700002.1:c.1633_1635del (MSH6)	ENSP00000514750.1:p.Lys545del
ENST00000700003.1:c.627+3547_627+3549del (MSH6)	ENSP00000514751.1:n.627+3547_627+3549del
ENST00000700004.1:c.784_786del (MSH6)	ENSP00000514752.1:p.Lys262del
ENST00000234420.11:c.1627_1629del (MSH6) MANE Select	ENSP00000234420.5:p.Lys543del
ENST00000540021.6:c.1237_1239del (MSH6)	ENSP00000446475.1:p.Lys413del
ENST00000652107.1:c.1330_1332del (MSH6)	ENSP00000498629.1:p.Lys444del
ENST00000673637.1:c.1330_1332del (MSH6)	ENSP00000501310.1:p.Lys444del
ENST00000234420.9:c.1627_1629del (MSH6)	ENSP00000234420.4:p.Lys543del
ENST00000405808.5:c.169+8583_169+8585del (FBXO11)	ENSP00000385127.1:n.169+8583_169+8585del
ENST00000434234.5:c.*124+8382_*124+8384del (FBXO11)	ENSP00000402692.1:n.*124+8382_*124+8384de...
ENST00000445503.5:c.*974_*976del (MSH6)	ENSP00000405294.1:n.*974_*976del
ENST00000538136.1:c.721_723del (MSH6)	ENSP00000438580.1:p.Lys241del
ENST00000540021.5:c.1237_1239del (MSH6)	ENSP00000446475.1:p.Lys413del
ENST00000614496.4:c.721_723del (MSH6)	ENSP00000477844.1:p.Lys241del
ENST00000616033.4:c.1624_1626del (MSH6)	ENSP00000480261.1:p.Lys542del
ENST00000622629.4:c.-1470_-1468del (MSH6)	ENSP00000482078.1:n.-1470_-1468del
NM_000179.2:c.1627_1629del , LRG_219t1:c.1627_1629del (MSH6)	NP_000170.1:p.Lys543del
NM_001281492.1:c.1237_1239del (MSH6)	NP_001268421.1:p.Lys413del
NM_001281493.1:c.721_723del (MSH6)	NP_001268422.1:p.Lys241del
NM_001281494.1:c.721_723del (MSH6)	NP_001268423.1:p.Lys241del
XM_005264271.1:c.1330_1332del (MSH6)	XP_005264328.1:p.Lys444del
XM_011532798.1:c.1444_1446del (MSH6)	XP_011531100.1:p.Lys482del
XM_011532799.1:c.1330_1332del (MSH6)	XP_011531101.1:p.Lys444del
XM_011532800.1:c.1330_1332del (MSH6)	XP_011531102.1:p.Lys444del
XM_024452819.1:c.1627_1629del (MSH6)	XP_024308587.1:p.Lys543del
XM_024452820.1:c.1444_1446del (MSH6)	XP_024308588.1:p.Lys482del
XM_024452821.1:c.1330_1332del (MSH6)	XP_024308589.1:p.Lys444del
XM_024452822.1:c.721_723del (MSH6)	XP_024308590.1:p.Lys241del
NM_000179.3:c.1627_1629del (MSH6) MANE Select	NP_000170.1:p.Lys543del
NM_001281492.2:c.1237_1239del (MSH6)	NP_001268421.1:p.Lys413del
NM_001281493.2:c.721_723del (MSH6)	NP_001268422.1:p.Lys241del
NM_001281494.2:c.721_723del (MSH6)	NP_001268423.1:p.Lys241del