Canonical Allele Identifier: CA2697548129

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2731125
• ClinVar RCV Id: RCV003595528

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799066_47799071del , CM000664.2:g.47799066_47799071del	GRCh38
NC_000002.11:g.48026205_48026210del , CM000664.1:g.48026205_48026210del	GRCh37
NC_000002.10:g.47879709_47879714del	NCBI36
NG_007111.1:g.20920_20925del , LRG_219:g.20920_20925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.786_791del (MSH6)	ENSP00000406248.2:p.Pro263_Thr264del
ENST00000420813.6:c.786_791del (MSH6)	ENSP00000390382.2:p.Pro263_Thr264del
ENST00000455383.6:c.786_791del (MSH6)	ENSP00000397484.2:p.Pro263_Thr264del
ENST00000700004.2:c.1083_1088del (MSH6)	ENSP00000514752.2:p.Pro362_Thr363del
ENST00000699999.1:n.1167_1172del (MSH6)
ENST00000700000.1:c.1083_1088del (MSH6)	ENSP00000514749.1:p.Pro362_Thr363del
ENST00000700002.1:c.1089_1094del (MSH6)	ENSP00000514750.1:p.Pro364_Thr365del
ENST00000700003.1:c.627+3003_627+3008del (MSH6)	ENSP00000514751.1:n.627+3003_627+3008del
ENST00000700004.1:c.240_245del (MSH6)	ENSP00000514752.1:p.Pro81_Thr82del
ENST00000234420.11:c.1083_1088del (MSH6) MANE Select	ENSP00000234420.5:p.Pro362_Thr363del
ENST00000540021.6:c.693_698del (MSH6)	ENSP00000446475.1:p.Pro232_Thr233del
ENST00000652107.1:c.786_791del (MSH6)	ENSP00000498629.1:p.Pro263_Thr264del
ENST00000673637.1:c.786_791del (MSH6)	ENSP00000501310.1:p.Pro263_Thr264del
ENST00000234420.9:c.1083_1088del (MSH6)	ENSP00000234420.4:p.Pro362_Thr363del
ENST00000405808.5:c.169+9124_169+9129del (FBXO11)	ENSP00000385127.1:n.169+9124_169+9129del
ENST00000434234.5:c.*124+8923_*124+8928del (FBXO11)	ENSP00000402692.1:n.*124+8923_*124+8928del
ENST00000445503.5:c.*430_*435del (MSH6)	ENSP00000405294.1:n.*430_*435del
ENST00000538136.1:c.177_182del (MSH6)	ENSP00000438580.1:p.Pro60_Thr61del
ENST00000540021.5:c.693_698del (MSH6)	ENSP00000446475.1:p.Pro232_Thr233del
ENST00000614496.4:c.177_182del (MSH6)	ENSP00000477844.1:p.Pro60_Thr61del
ENST00000616033.4:c.1080_1085del (MSH6)	ENSP00000480261.1:p.Pro361_Thr362del
ENST00000622629.4:c.-2014_-2009del (MSH6)	ENSP00000482078.1:n.-2014_-2009del
NM_000179.2:c.1083_1088del , LRG_219t1:c.1083_1088del (MSH6)	NP_000170.1:p.Pro362_Thr363del
NM_001281492.1:c.693_698del (MSH6)	NP_001268421.1:p.Pro232_Thr233del
NM_001281493.1:c.177_182del (MSH6)	NP_001268422.1:p.Pro60_Thr61del
NM_001281494.1:c.177_182del (MSH6)	NP_001268423.1:p.Pro60_Thr61del
XM_005264271.1:c.786_791del (MSH6)	XP_005264328.1:p.Pro263_Thr264del
XM_011532798.1:c.900_905del (MSH6)	XP_011531100.1:p.Pro301_Thr302del
XM_011532799.1:c.786_791del (MSH6)	XP_011531101.1:p.Pro263_Thr264del
XM_011532800.1:c.786_791del (MSH6)	XP_011531102.1:p.Pro263_Thr264del
XM_024452819.1:c.1083_1088del (MSH6)	XP_024308587.1:p.Pro362_Thr363del
XM_024452820.1:c.900_905del (MSH6)	XP_024308588.1:p.Pro301_Thr302del
XM_024452821.1:c.786_791del (MSH6)	XP_024308589.1:p.Pro263_Thr264del
XM_024452822.1:c.177_182del (MSH6)	XP_024308590.1:p.Pro60_Thr61del
NM_000179.3:c.1083_1088del (MSH6) MANE Select	NP_000170.1:p.Pro362_Thr363del
NM_001281492.2:c.693_698del (MSH6)	NP_001268421.1:p.Pro232_Thr233del
NM_001281493.2:c.177_182del (MSH6)	NP_001268422.1:p.Pro60_Thr61del
NM_001281494.2:c.177_182del (MSH6)	NP_001268423.1:p.Pro60_Thr61del