Canonical Allele Identifier: CA2580611361

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1781284
• ClinVar RCV Id: RCV002412971

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799832_47799833dup , CM000664.2:g.47799832_47799833dup	GRCh38
NC_000002.11:g.48026971_48026972dup , CM000664.1:g.48026971_48026972dup	GRCh37
NC_000002.10:g.47880475_47880476dup	NCBI36
NG_007111.1:g.21686_21687dup , LRG_219:g.21686_21687dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1552_1553dup (MSH6)	ENSP00000406248.2:p.Gln519PhefsTer5
ENST00000420813.6:c.1552_1553dup (MSH6)	ENSP00000390382.2:p.Gln519PhefsTer5
ENST00000455383.6:c.1552_1553dup (MSH6)	ENSP00000397484.2:p.Gln519PhefsTer5
ENST00000700004.2:c.1849_1850dup (MSH6)	ENSP00000514752.2:p.Gln618PhefsTer5
ENST00000699999.1:n.1933_1934dup (MSH6)
ENST00000700000.1:c.1606+243_1606+244dup (MSH6)	ENSP00000514749.1:n.1606+243_1606+244dup
ENST00000700002.1:c.1855_1856dup (MSH6)	ENSP00000514750.1:p.Gln620PhefsTer5
ENST00000700003.1:c.628-3588_628-3587dup (MSH6)	ENSP00000514751.1:n.628-3588_628-3587dup
ENST00000700004.1:c.1006_1007dup (MSH6)	ENSP00000514752.1:p.Gln337PhefsTer5
ENST00000234420.11:c.1849_1850dup (MSH6) MANE Select	ENSP00000234420.5:p.Gln618PhefsTer5
ENST00000540021.6:c.1459_1460dup (MSH6)	ENSP00000446475.1:p.Gln488PhefsTer5
ENST00000652107.1:c.1552_1553dup (MSH6)	ENSP00000498629.1:p.Gln519PhefsTer5
ENST00000673637.1:c.1552_1553dup (MSH6)	ENSP00000501310.1:p.Gln519PhefsTer5
ENST00000234420.9:c.1849_1850dup (MSH6)	ENSP00000234420.4:p.Gln618PhefsTer5
ENST00000405808.5:c.169+8365_169+8366dup (FBXO11)	ENSP00000385127.1:n.169+8365_169+8366dup
ENST00000434234.5:c.*124+8164_*124+8165dup (FBXO11)	ENSP00000402692.1:n.*124+8164_*124+8165du...
ENST00000445503.5:c.*1196_*1197dup (MSH6)	ENSP00000405294.1:n.*1196_*1197dup
ENST00000538136.1:c.943_944dup (MSH6)	ENSP00000438580.1:p.Gln316PhefsTer5
ENST00000540021.5:c.1459_1460dup (MSH6)	ENSP00000446475.1:p.Gln488PhefsTer5
ENST00000614496.4:c.943_944dup (MSH6)	ENSP00000477844.1:p.Gln316PhefsTer5
ENST00000616033.4:c.1846_1847dup (MSH6)	ENSP00000480261.1:p.Gln617PhefsTer5
ENST00000622629.4:c.-1248_-1247dup (MSH6)	ENSP00000482078.1:n.-1248_-1247dup
NM_000179.2:c.1849_1850dup , LRG_219t1:c.1849_1850dup (MSH6)	NP_000170.1:p.Gln618PhefsTer5
NM_001281492.1:c.1459_1460dup (MSH6)	NP_001268421.1:p.Gln488PhefsTer5
NM_001281493.1:c.943_944dup (MSH6)	NP_001268422.1:p.Gln316PhefsTer5
NM_001281494.1:c.943_944dup (MSH6)	NP_001268423.1:p.Gln316PhefsTer5
XM_005264271.1:c.1552_1553dup (MSH6)	XP_005264328.1:p.Gln519PhefsTer5
XM_011532798.1:c.1666_1667dup (MSH6)	XP_011531100.1:p.Gln557PhefsTer5
XM_011532799.1:c.1552_1553dup (MSH6)	XP_011531101.1:p.Gln519PhefsTer5
XM_011532800.1:c.1552_1553dup (MSH6)	XP_011531102.1:p.Gln519PhefsTer5
XM_024452819.1:c.1849_1850dup (MSH6)	XP_024308587.1:p.Gln618PhefsTer5
XM_024452820.1:c.1666_1667dup (MSH6)	XP_024308588.1:p.Gln557PhefsTer5
XM_024452821.1:c.1552_1553dup (MSH6)	XP_024308589.1:p.Gln519PhefsTer5
XM_024452822.1:c.943_944dup (MSH6)	XP_024308590.1:p.Gln316PhefsTer5
NM_000179.3:c.1849_1850dup (MSH6) MANE Select	NP_000170.1:p.Gln618PhefsTer5
NM_001281492.2:c.1459_1460dup (MSH6)	NP_001268421.1:p.Gln488PhefsTer5
NM_001281493.2:c.943_944dup (MSH6)	NP_001268422.1:p.Gln316PhefsTer5
NM_001281494.2:c.943_944dup (MSH6)	NP_001268423.1:p.Gln316PhefsTer5