Canonical Allele Identifier: CA2580067661

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1776954
• ClinVar RCV Id: RCV002403483

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799621_47799622delinsA , CM000664.2:g.47799621_47799622delinsA	GRCh38
NC_000002.11:g.48026760_48026761delinsA , CM000664.1:g.48026760_48026761delinsA	GRCh37
NC_000002.10:g.47880264_47880265delinsA	NCBI36
NG_007111.1:g.21475_21476delinsA , LRG_219:g.21475_21476delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1341_1342delinsA (MSH6)	ENSP00000406248.2:p.Glu448LysfsTer24
ENST00000420813.6:c.1341_1342delinsA (MSH6)	ENSP00000390382.2:p.Glu448LysfsTer24
ENST00000455383.6:c.1341_1342delinsA (MSH6)	ENSP00000397484.2:p.Glu448LysfsTer24
ENST00000700004.2:c.1638_1639delinsA (MSH6)	ENSP00000514752.2:p.Glu547LysfsTer24
ENST00000699999.1:n.1722_1723delinsA (MSH6)
ENST00000700000.1:c.1606+32_1606+33delinsA (MSH6)	ENSP00000514749.1:n.1606+32_1606+33delinsA
ENST00000700002.1:c.1644_1645delinsA (MSH6)	ENSP00000514750.1:p.Glu549LysfsTer24
ENST00000700003.1:c.627+3558_627+3559delinsA (MSH6)	ENSP00000514751.1:n.627+3558_627+3559delinsA
ENST00000700004.1:c.795_796delinsA (MSH6)	ENSP00000514752.1:p.Glu266LysfsTer24
ENST00000234420.11:c.1638_1639delinsA (MSH6) MANE Select	ENSP00000234420.5:p.Glu547LysfsTer24
ENST00000540021.6:c.1248_1249delinsA (MSH6)	ENSP00000446475.1:p.Glu417LysfsTer24
ENST00000652107.1:c.1341_1342delinsA (MSH6)	ENSP00000498629.1:p.Glu448LysfsTer24
ENST00000673637.1:c.1341_1342delinsA (MSH6)	ENSP00000501310.1:p.Glu448LysfsTer24
ENST00000234420.9:c.1638_1639delinsA (MSH6)	ENSP00000234420.4:p.Glu547LysfsTer24
ENST00000405808.5:c.169+8573_169+8574delinsT (FBXO11)	ENSP00000385127.1:n.169+8573_169+8574delinsT
ENST00000434234.5:c.*124+8372_*124+8373delinsT (FBXO11)	ENSP00000402692.1:n.*124+8372_*124+8373delinsT
ENST00000445503.5:c.*985_*986delinsA (MSH6)	ENSP00000405294.1:n.*985_*986delinsA
ENST00000538136.1:c.732_733delinsA (MSH6)	ENSP00000438580.1:p.Glu245LysfsTer24
ENST00000540021.5:c.1248_1249delinsA (MSH6)	ENSP00000446475.1:p.Glu417LysfsTer24
ENST00000614496.4:c.732_733delinsA (MSH6)	ENSP00000477844.1:p.Glu245LysfsTer24
ENST00000616033.4:c.1635_1636delinsA (MSH6)	ENSP00000480261.1:p.Glu546LysfsTer24
ENST00000622629.4:c.-1459_-1458delinsA (MSH6)	ENSP00000482078.1:n.-1459_-1458delinsA
NM_000179.2:c.1638_1639delinsA , LRG_219t1:c.1638_1639delinsA (MSH6)	NP_000170.1:p.Glu547LysfsTer24
NM_001281492.1:c.1248_1249delinsA (MSH6)	NP_001268421.1:p.Glu417LysfsTer24
NM_001281493.1:c.732_733delinsA (MSH6)	NP_001268422.1:p.Glu245LysfsTer24
NM_001281494.1:c.732_733delinsA (MSH6)	NP_001268423.1:p.Glu245LysfsTer24
XM_005264271.1:c.1341_1342delinsA (MSH6)	XP_005264328.1:p.Glu448LysfsTer24
XM_011532798.1:c.1455_1456delinsA (MSH6)	XP_011531100.1:p.Glu486LysfsTer24
XM_011532799.1:c.1341_1342delinsA (MSH6)	XP_011531101.1:p.Glu448LysfsTer24
XM_011532800.1:c.1341_1342delinsA (MSH6)	XP_011531102.1:p.Glu448LysfsTer24
XM_024452819.1:c.1638_1639delinsA (MSH6)	XP_024308587.1:p.Glu547LysfsTer24
XM_024452820.1:c.1455_1456delinsA (MSH6)	XP_024308588.1:p.Glu486LysfsTer24
XM_024452821.1:c.1341_1342delinsA (MSH6)	XP_024308589.1:p.Glu448LysfsTer24
XM_024452822.1:c.732_733delinsA (MSH6)	XP_024308590.1:p.Glu245LysfsTer24
NM_000179.3:c.1638_1639delinsA (MSH6) MANE Select	NP_000170.1:p.Glu547LysfsTer24
NM_001281492.2:c.1248_1249delinsA (MSH6)	NP_001268421.1:p.Glu417LysfsTer24
NM_001281493.2:c.732_733delinsA (MSH6)	NP_001268422.1:p.Glu245LysfsTer24
NM_001281494.2:c.732_733delinsA (MSH6)	NP_001268423.1:p.Glu245LysfsTer24