Canonical Allele Identifier: CA2573051969

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1331368
• ClinVar RCV Id: RCV001806712 ; RCV003451945
• dbSNP Id: rs2104380945

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799974_47799975del , CM000664.2:g.47799974_47799975del	GRCh38
NC_000002.11:g.48027113_48027114del , CM000664.1:g.48027113_48027114del	GRCh37
NC_000002.10:g.47880617_47880618del	NCBI36
NG_007111.1:g.21828_21829del , LRG_219:g.21828_21829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1694_1695del (MSH6)	ENSP00000406248.2:p.Ser565Ter
ENST00000420813.6:c.1694_1695del (MSH6)	ENSP00000390382.2:p.Ser565Ter
ENST00000455383.6:c.1694_1695del (MSH6)	ENSP00000397484.2:p.Ser565Ter
ENST00000700004.2:c.1991_1992del (MSH6)	ENSP00000514752.2:p.Ser664Ter
ENST00000699999.1:n.2075_2076del (MSH6)
ENST00000700000.1:c.1606+385_1606+386del (MSH6)	ENSP00000514749.1:n.1606+385_1606+386del
ENST00000700002.1:c.1997_1998del (MSH6)	ENSP00000514750.1:p.Ser666Ter
ENST00000700003.1:c.628-3446_628-3445del (MSH6)	ENSP00000514751.1:n.628-3446_628-3445del
ENST00000700004.1:c.1148_1149del (MSH6)	ENSP00000514752.1:p.Ser383Ter
ENST00000234420.11:c.1991_1992del (MSH6) MANE Select	ENSP00000234420.5:p.Ser664Ter
ENST00000540021.6:c.1601_1602del (MSH6)	ENSP00000446475.1:p.Ser534Ter
ENST00000652107.1:c.1694_1695del (MSH6)	ENSP00000498629.1:p.Ser565Ter
ENST00000673637.1:c.1694_1695del (MSH6)	ENSP00000501310.1:p.Ser565Ter
ENST00000234420.9:c.1991_1992del (MSH6)	ENSP00000234420.4:p.Ser664Ter
ENST00000405808.5:c.169+8220_169+8221del (FBXO11)	ENSP00000385127.1:n.169+8220_169+8221del
ENST00000434234.5:c.*124+8019_*124+8020del (FBXO11)	ENSP00000402692.1:n.*124+8019_*124+8020del
ENST00000445503.5:c.*1338_*1339del (MSH6)	ENSP00000405294.1:n.*1338_*1339del
ENST00000538136.1:c.1085_1086del (MSH6)	ENSP00000438580.1:p.Ser362Ter
ENST00000540021.5:c.1601_1602del (MSH6)	ENSP00000446475.1:p.Ser534Ter
ENST00000614496.4:c.1085_1086del (MSH6)	ENSP00000477844.1:p.Ser362Ter
ENST00000616033.4:c.1988_1989del (MSH6)	ENSP00000480261.1:p.Ser663Ter
ENST00000622629.4:c.-1106_-1105del (MSH6)	ENSP00000482078.1:n.-1106_-1105del
NM_000179.2:c.1991_1992del , LRG_219t1:c.1991_1992del (MSH6)	NP_000170.1:p.Ser664Ter
NM_001281492.1:c.1601_1602del (MSH6)	NP_001268421.1:p.Ser534Ter
NM_001281493.1:c.1085_1086del (MSH6)	NP_001268422.1:p.Ser362Ter
NM_001281494.1:c.1085_1086del (MSH6)	NP_001268423.1:p.Ser362Ter
XM_005264271.1:c.1694_1695del (MSH6)	XP_005264328.1:p.Ser565Ter
XM_011532798.1:c.1808_1809del (MSH6)	XP_011531100.1:p.Ser603Ter
XM_011532799.1:c.1694_1695del (MSH6)	XP_011531101.1:p.Ser565Ter
XM_011532800.1:c.1694_1695del (MSH6)	XP_011531102.1:p.Ser565Ter
XM_024452819.1:c.1991_1992del (MSH6)	XP_024308587.1:p.Ser664Ter
XM_024452820.1:c.1808_1809del (MSH6)	XP_024308588.1:p.Ser603Ter
XM_024452821.1:c.1694_1695del (MSH6)	XP_024308589.1:p.Ser565Ter
XM_024452822.1:c.1085_1086del (MSH6)	XP_024308590.1:p.Ser362Ter
NM_000179.3:c.1991_1992del (MSH6) MANE Select	NP_000170.1:p.Ser664Ter
NM_001281492.2:c.1601_1602del (MSH6)	NP_001268421.1:p.Ser534Ter
NM_001281493.2:c.1085_1086del (MSH6)	NP_001268422.1:p.Ser362Ter
NM_001281494.2:c.1085_1086del (MSH6)	NP_001268423.1:p.Ser362Ter