Canonical Allele Identifier: CA2580611332

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1072621
• ClinVar RCV Id: RCV001385384 ; RCV002377571
• dbSNP Id: rs2104306720

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798911_47798912del , CM000664.2:g.47798911_47798912del	GRCh38
NC_000002.11:g.48026050_48026051del , CM000664.1:g.48026050_48026051del	GRCh37
NC_000002.10:g.47879554_47879555del	NCBI36
NG_007111.1:g.20765_20766del , LRG_219:g.20765_20766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.631_632del (MSH6)	ENSP00000406248.2:p.Leu211Ter
ENST00000420813.6:c.631_632del (MSH6)	ENSP00000390382.2:p.Leu211Ter
ENST00000455383.6:c.631_632del (MSH6)	ENSP00000397484.2:p.Leu211Ter
ENST00000700004.2:c.928_929del (MSH6)	ENSP00000514752.2:p.Leu310Ter
ENST00000699999.1:n.1012_1013del (MSH6)
ENST00000700000.1:c.928_929del (MSH6)	ENSP00000514749.1:p.Leu310Ter
ENST00000700002.1:c.934_935del (MSH6)	ENSP00000514750.1:p.Leu312Ter
ENST00000700003.1:c.627+2848_627+2849del (MSH6)	ENSP00000514751.1:n.627+2848_627+2849del
ENST00000700004.1:c.85_86del (MSH6)	ENSP00000514752.1:p.Leu29Ter
ENST00000234420.11:c.928_929del (MSH6) MANE Select	ENSP00000234420.5:p.Leu310Ter
ENST00000540021.6:c.538_539del (MSH6)	ENSP00000446475.1:p.Leu180Ter
ENST00000652107.1:c.631_632del (MSH6)	ENSP00000498629.1:p.Leu211Ter
ENST00000673637.1:c.631_632del (MSH6)	ENSP00000501310.1:p.Leu211Ter
ENST00000234420.9:c.928_929del (MSH6)	ENSP00000234420.4:p.Leu310Ter
ENST00000405808.5:c.169+9287_169+9288del (FBXO11)	ENSP00000385127.1:n.169+9287_169+9288del
ENST00000434234.5:c.*124+9086_*124+9087del (FBXO11)	ENSP00000402692.1:n.*124+9086_*124+9087del
ENST00000445503.5:c.*275_*276del (MSH6)	ENSP00000405294.1:n.*275_*276del
ENST00000456246.1:c.*416_*417del (MSH6)	ENSP00000410570.1:n.*416_*417del
ENST00000538136.1:c.22_23del (MSH6)	ENSP00000438580.1:p.Leu8Ter
ENST00000540021.5:c.538_539del (MSH6)	ENSP00000446475.1:p.Leu180Ter
ENST00000614496.4:c.22_23del (MSH6)	ENSP00000477844.1:p.Leu8Ter
ENST00000616033.4:c.925_926del (MSH6)	ENSP00000480261.1:p.Leu309Ter
ENST00000622629.4:c.-2169_-2168del (MSH6)	ENSP00000482078.1:n.-2169_-2168del
NM_000179.2:c.928_929del , LRG_219t1:c.928_929del (MSH6)	NP_000170.1:p.Leu310Ter
NM_001281492.1:c.538_539del (MSH6)	NP_001268421.1:p.Leu180Ter
NM_001281493.1:c.22_23del (MSH6)	NP_001268422.1:p.Leu8Ter
NM_001281494.1:c.22_23del (MSH6)	NP_001268423.1:p.Leu8Ter
XM_005264271.1:c.631_632del (MSH6)	XP_005264328.1:p.Leu211Ter
XM_011532798.1:c.745_746del (MSH6)	XP_011531100.1:p.Leu249Ter
XM_011532799.1:c.631_632del (MSH6)	XP_011531101.1:p.Leu211Ter
XM_011532800.1:c.631_632del (MSH6)	XP_011531102.1:p.Leu211Ter
XM_024452819.1:c.928_929del (MSH6)	XP_024308587.1:p.Leu310Ter
XM_024452820.1:c.745_746del (MSH6)	XP_024308588.1:p.Leu249Ter
XM_024452821.1:c.631_632del (MSH6)	XP_024308589.1:p.Leu211Ter
XM_024452822.1:c.22_23del (MSH6)	XP_024308590.1:p.Leu8Ter
NM_000179.3:c.928_929del (MSH6) MANE Select	NP_000170.1:p.Leu310Ter
NM_001281492.2:c.538_539del (MSH6)	NP_001268421.1:p.Leu180Ter
NM_001281493.2:c.22_23del (MSH6)	NP_001268422.1:p.Leu8Ter
NM_001281494.2:c.22_23del (MSH6)	NP_001268423.1:p.Leu8Ter