Canonical Allele Identifier: CA2580067752

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1785279
• ClinVar RCV Id: RCV002422028

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800048_47800056dup , CM000664.2:g.47800048_47800056dup	GRCh38
NC_000002.11:g.48027187_48027195dup , CM000664.1:g.48027187_48027195dup	GRCh37
NC_000002.10:g.47880691_47880699dup	NCBI36
NG_007111.1:g.21902_21910dup , LRG_219:g.21902_21910dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1768_1776dup (MSH6)	ENSP00000406248.2:p.Leu592_Lys593insPheTyrLeu
ENST00000420813.6:c.1768_1776dup (MSH6)	ENSP00000390382.2:p.Leu592_Lys593insPheTyrLeu
ENST00000455383.6:c.1768_1776dup (MSH6)	ENSP00000397484.2:p.Leu592_Lys593insPheTyrLeu
ENST00000700004.2:c.2065_2073dup (MSH6)	ENSP00000514752.2:p.Leu691_Lys692insPheTyrLeu
ENST00000699999.1:n.2149_2157dup (MSH6)
ENST00000700000.1:c.1606+459_1606+467dup (MSH6)	ENSP00000514749.1:n.1606+459_1606+467dup
ENST00000700002.1:c.2071_2079dup (MSH6)	ENSP00000514750.1:p.Leu693_Lys694insPheTyrLeu
ENST00000700003.1:c.628-3372_628-3364dup (MSH6)	ENSP00000514751.1:n.628-3372_628-3364dup
ENST00000700004.1:c.1222_1230dup (MSH6)	ENSP00000514752.1:p.Leu410_Lys411insPheTyrLeu
ENST00000234420.11:c.2065_2073dup (MSH6) MANE Select	ENSP00000234420.5:p.Leu691_Lys692insPheTyrLeu
ENST00000540021.6:c.1675_1683dup (MSH6)	ENSP00000446475.1:p.Leu561_Lys562insPheTyrLeu
ENST00000652107.1:c.1768_1776dup (MSH6)	ENSP00000498629.1:p.Leu592_Lys593insPheTyrLeu
ENST00000673637.1:c.1768_1776dup (MSH6)	ENSP00000501310.1:p.Leu592_Lys593insPheTyrLeu
ENST00000234420.9:c.2065_2073dup (MSH6)	ENSP00000234420.4:p.Leu691_Lys692insPheTyrLeu
ENST00000405808.5:c.169+8141_169+8149dup (FBXO11)	ENSP00000385127.1:n.169+8141_169+8149dup
ENST00000434234.5:c.*124+7940_*124+7948dup (FBXO11)	ENSP00000402692.1:n.*124+7940_*124+7948dup
ENST00000445503.5:c.*1412_*1420dup (MSH6)	ENSP00000405294.1:n.*1412_*1420dup
ENST00000538136.1:c.1159_1167dup (MSH6)	ENSP00000438580.1:p.Leu389_Lys390insPheTyrLeu
ENST00000540021.5:c.1675_1683dup (MSH6)	ENSP00000446475.1:p.Leu561_Lys562insPheTyrLeu
ENST00000614496.4:c.1159_1167dup (MSH6)	ENSP00000477844.1:p.Leu389_Lys390insPheTyrLeu
ENST00000616033.4:c.2062_2070dup (MSH6)	ENSP00000480261.1:p.Leu690_Lys691insPheTyrLeu
ENST00000622629.4:c.-1032_-1024dup (MSH6)	ENSP00000482078.1:n.-1032_-1024dup
NM_000179.2:c.2065_2073dup , LRG_219t1:c.2065_2073dup (MSH6)	NP_000170.1:p.Leu691_Lys692insPheTyrLeu
NM_001281492.1:c.1675_1683dup (MSH6)	NP_001268421.1:p.Leu561_Lys562insPheTyrLeu
NM_001281493.1:c.1159_1167dup (MSH6)	NP_001268422.1:p.Leu389_Lys390insPheTyrLeu
NM_001281494.1:c.1159_1167dup (MSH6)	NP_001268423.1:p.Leu389_Lys390insPheTyrLeu
XM_005264271.1:c.1768_1776dup (MSH6)	XP_005264328.1:p.Leu592_Lys593insPheTyrLeu
XM_011532798.1:c.1882_1890dup (MSH6)	XP_011531100.1:p.Leu630_Lys631insPheTyrLeu
XM_011532799.1:c.1768_1776dup (MSH6)	XP_011531101.1:p.Leu592_Lys593insPheTyrLeu
XM_011532800.1:c.1768_1776dup (MSH6)	XP_011531102.1:p.Leu592_Lys593insPheTyrLeu
XM_024452819.1:c.2065_2073dup (MSH6)	XP_024308587.1:p.Leu691_Lys692insPheTyrLeu
XM_024452820.1:c.1882_1890dup (MSH6)	XP_024308588.1:p.Leu630_Lys631insPheTyrLeu
XM_024452821.1:c.1768_1776dup (MSH6)	XP_024308589.1:p.Leu592_Lys593insPheTyrLeu
XM_024452822.1:c.1159_1167dup (MSH6)	XP_024308590.1:p.Leu389_Lys390insPheTyrLeu
NM_000179.3:c.2065_2073dup (MSH6) MANE Select	NP_000170.1:p.Leu691_Lys692insPheTyrLeu
NM_001281492.2:c.1675_1683dup (MSH6)	NP_001268421.1:p.Leu561_Lys562insPheTyrLeu
NM_001281493.2:c.1159_1167dup (MSH6)	NP_001268422.1:p.Leu389_Lys390insPheTyrLeu
NM_001281494.2:c.1159_1167dup (MSH6)	NP_001268423.1:p.Leu389_Lys390insPheTyrLeu