Canonical Allele Identifier: CA2499216101

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1069424
• ClinVar RCV Id: RCV001381288
• dbSNP Id: rs63750854

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799404_47799405del , CM000664.2:g.47799404_47799405del	GRCh38
NC_000002.11:g.48026543_48026544del , CM000664.1:g.48026543_48026544del	GRCh37
NC_000002.10:g.47880047_47880048del	NCBI36
NG_007111.1:g.21258_21259del , LRG_219:g.21258_21259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1124_1125del (MSH6)	ENSP00000406248.2:p.Val375AlafsTer5
ENST00000420813.6:c.1124_1125del (MSH6)	ENSP00000390382.2:p.Val375AlafsTer5
ENST00000455383.6:c.1124_1125del (MSH6)	ENSP00000397484.2:p.Val375AlafsTer5
ENST00000700004.2:c.1421_1422del (MSH6)	ENSP00000514752.2:p.Val474AlafsTer5
ENST00000699999.1:n.1505_1506del (MSH6)
ENST00000700000.1:c.1421_1422del (MSH6)	ENSP00000514749.1:p.Val474AlafsTer5
ENST00000700002.1:c.1427_1428del (MSH6)	ENSP00000514750.1:p.Val476AlafsTer5
ENST00000700003.1:c.627+3341_627+3342del (MSH6)	ENSP00000514751.1:n.627+3341_627+3342del
ENST00000700004.1:c.578_579del (MSH6)	ENSP00000514752.1:p.Val193AlafsTer5
ENST00000234420.11:c.1421_1422del (MSH6) MANE Select	ENSP00000234420.5:p.Val474AlafsTer5
ENST00000540021.6:c.1031_1032del (MSH6)	ENSP00000446475.1:p.Val344AlafsTer5
ENST00000652107.1:c.1124_1125del (MSH6)	ENSP00000498629.1:p.Val375AlafsTer5
ENST00000673637.1:c.1124_1125del (MSH6)	ENSP00000501310.1:p.Val375AlafsTer5
ENST00000234420.9:c.1421_1422del (MSH6)	ENSP00000234420.4:p.Val474AlafsTer5
ENST00000405808.5:c.169+8791_169+8792del (FBXO11)	ENSP00000385127.1:n.169+8791_169+8792del
ENST00000434234.5:c.*124+8590_*124+8591del (FBXO11)	ENSP00000402692.1:n.*124+8590_*124+8591del
ENST00000445503.5:c.*768_*769del (MSH6)	ENSP00000405294.1:n.*768_*769del
ENST00000538136.1:c.515_516del (MSH6)	ENSP00000438580.1:p.Val172AlafsTer5
ENST00000540021.5:c.1031_1032del (MSH6)	ENSP00000446475.1:p.Val344AlafsTer5
ENST00000614496.4:c.515_516del (MSH6)	ENSP00000477844.1:p.Val172AlafsTer5
ENST00000616033.4:c.1418_1419del (MSH6)	ENSP00000480261.1:p.Val473AlafsTer5
ENST00000622629.4:c.-1676_-1675del (MSH6)	ENSP00000482078.1:n.-1676_-1675del
NM_000179.2:c.1421_1422del , LRG_219t1:c.1421_1422del (MSH6)	NP_000170.1:p.Val474AlafsTer5
NM_001281492.1:c.1031_1032del (MSH6)	NP_001268421.1:p.Val344AlafsTer5
NM_001281493.1:c.515_516del (MSH6)	NP_001268422.1:p.Val172AlafsTer5
NM_001281494.1:c.515_516del (MSH6)	NP_001268423.1:p.Val172AlafsTer5
XM_005264271.1:c.1124_1125del (MSH6)	XP_005264328.1:p.Val375AlafsTer5
XM_011532798.1:c.1238_1239del (MSH6)	XP_011531100.1:p.Val413AlafsTer5
XM_011532799.1:c.1124_1125del (MSH6)	XP_011531101.1:p.Val375AlafsTer5
XM_011532800.1:c.1124_1125del (MSH6)	XP_011531102.1:p.Val375AlafsTer5
XM_024452819.1:c.1421_1422del (MSH6)	XP_024308587.1:p.Val474AlafsTer5
XM_024452820.1:c.1238_1239del (MSH6)	XP_024308588.1:p.Val413AlafsTer5
XM_024452821.1:c.1124_1125del (MSH6)	XP_024308589.1:p.Val375AlafsTer5
XM_024452822.1:c.515_516del (MSH6)	XP_024308590.1:p.Val172AlafsTer5
NM_000179.3:c.1421_1422del (MSH6) MANE Select	NP_000170.1:p.Val474AlafsTer5
NM_001281492.2:c.1031_1032del (MSH6)	NP_001268421.1:p.Val344AlafsTer5
NM_001281493.2:c.515_516del (MSH6)	NP_001268422.1:p.Val172AlafsTer5
NM_001281494.2:c.515_516del (MSH6)	NP_001268423.1:p.Val172AlafsTer5