Canonical Allele Identifier: CA2580067546

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1767205
• ClinVar RCV Id: RCV002374166

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799262_47799265del , CM000664.2:g.47799262_47799265del	GRCh38
NC_000002.11:g.48026401_48026404del , CM000664.1:g.48026401_48026404del	GRCh37
NC_000002.10:g.47879905_47879908del	NCBI36
NG_007111.1:g.21116_21119del , LRG_219:g.21116_21119del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.982_985del (MSH6)	ENSP00000406248.2:p.Tyr328ArgfsTer25
ENST00000420813.6:c.982_985del (MSH6)	ENSP00000390382.2:p.Tyr328ArgfsTer25
ENST00000455383.6:c.982_985del (MSH6)	ENSP00000397484.2:p.Tyr328ArgfsTer25
ENST00000700004.2:c.1279_1282del (MSH6)	ENSP00000514752.2:p.Tyr427ArgfsTer25
ENST00000699999.1:n.1363_1366del (MSH6)
ENST00000700000.1:c.1279_1282del (MSH6)	ENSP00000514749.1:p.Tyr427ArgfsTer25
ENST00000700002.1:c.1285_1288del (MSH6)	ENSP00000514750.1:p.Tyr429ArgfsTer25
ENST00000700003.1:c.627+3199_627+3202del (MSH6)	ENSP00000514751.1:n.627+3199_627+3202del
ENST00000700004.1:c.436_439del (MSH6)	ENSP00000514752.1:p.Tyr146ArgfsTer25
ENST00000234420.11:c.1279_1282del (MSH6) MANE Select	ENSP00000234420.5:p.Tyr427ArgfsTer25
ENST00000540021.6:c.889_892del (MSH6)	ENSP00000446475.1:p.Tyr297ArgfsTer25
ENST00000652107.1:c.982_985del (MSH6)	ENSP00000498629.1:p.Tyr328ArgfsTer25
ENST00000673637.1:c.982_985del (MSH6)	ENSP00000501310.1:p.Tyr328ArgfsTer25
ENST00000234420.9:c.1279_1282del (MSH6)	ENSP00000234420.4:p.Tyr427ArgfsTer25
ENST00000405808.5:c.169+8930_169+8933del (FBXO11)	ENSP00000385127.1:n.169+8930_169+8933del
ENST00000434234.5:c.*124+8729_*124+8732del (FBXO11)	ENSP00000402692.1:n.*124+8729_*124+8732de...
ENST00000445503.5:c.*626_*629del (MSH6)	ENSP00000405294.1:n.*626_*629del
ENST00000538136.1:c.373_376del (MSH6)	ENSP00000438580.1:p.Tyr125ArgfsTer25
ENST00000540021.5:c.889_892del (MSH6)	ENSP00000446475.1:p.Tyr297ArgfsTer25
ENST00000614496.4:c.373_376del (MSH6)	ENSP00000477844.1:p.Tyr125ArgfsTer25
ENST00000616033.4:c.1276_1279del (MSH6)	ENSP00000480261.1:p.Tyr426ArgfsTer25
ENST00000622629.4:c.-1818_-1815del (MSH6)	ENSP00000482078.1:n.-1818_-1815del
NM_000179.2:c.1279_1282del , LRG_219t1:c.1279_1282del (MSH6)	NP_000170.1:p.Tyr427ArgfsTer25
NM_001281492.1:c.889_892del (MSH6)	NP_001268421.1:p.Tyr297ArgfsTer25
NM_001281493.1:c.373_376del (MSH6)	NP_001268422.1:p.Tyr125ArgfsTer25
NM_001281494.1:c.373_376del (MSH6)	NP_001268423.1:p.Tyr125ArgfsTer25
XM_005264271.1:c.982_985del (MSH6)	XP_005264328.1:p.Tyr328ArgfsTer25
XM_011532798.1:c.1096_1099del (MSH6)	XP_011531100.1:p.Tyr366ArgfsTer25
XM_011532799.1:c.982_985del (MSH6)	XP_011531101.1:p.Tyr328ArgfsTer25
XM_011532800.1:c.982_985del (MSH6)	XP_011531102.1:p.Tyr328ArgfsTer25
XM_024452819.1:c.1279_1282del (MSH6)	XP_024308587.1:p.Tyr427ArgfsTer25
XM_024452820.1:c.1096_1099del (MSH6)	XP_024308588.1:p.Tyr366ArgfsTer25
XM_024452821.1:c.982_985del (MSH6)	XP_024308589.1:p.Tyr328ArgfsTer25
XM_024452822.1:c.373_376del (MSH6)	XP_024308590.1:p.Tyr125ArgfsTer25
NM_000179.3:c.1279_1282del (MSH6) MANE Select	NP_000170.1:p.Tyr427ArgfsTer25
NM_001281492.2:c.889_892del (MSH6)	NP_001268421.1:p.Tyr297ArgfsTer25
NM_001281493.2:c.373_376del (MSH6)	NP_001268422.1:p.Tyr125ArgfsTer25
NM_001281494.2:c.373_376del (MSH6)	NP_001268423.1:p.Tyr125ArgfsTer25