Canonical Allele Identifier: CA915943924

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 820497
• ClinVar RCV Id: RCV001014008 ; RCV002290530 ; RCV001860755 ; RCV003461335
• dbSNP Id: rs1572725235

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799980_47799981del , CM000664.2:g.47799980_47799981del	GRCh38
NC_000002.11:g.48027119_48027120del , CM000664.1:g.48027119_48027120del	GRCh37
NC_000002.10:g.47880623_47880624del	NCBI36
NG_007111.1:g.21834_21835del , LRG_219:g.21834_21835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1700_1701del (MSH6)	ENSP00000406248.2:p.Ser567Ter
ENST00000420813.6:c.1700_1701del (MSH6)	ENSP00000390382.2:p.Ser567Ter
ENST00000455383.6:c.1700_1701del (MSH6)	ENSP00000397484.2:p.Ser567Ter
ENST00000700004.2:c.1997_1998del (MSH6)	ENSP00000514752.2:p.Ser666Ter
ENST00000699999.1:n.2081_2082del (MSH6)
ENST00000700000.1:c.1606+391_1606+392del (MSH6)	ENSP00000514749.1:n.1606+391_1606+392del
ENST00000700002.1:c.2003_2004del (MSH6)	ENSP00000514750.1:p.Ser668Ter
ENST00000700003.1:c.628-3440_628-3439del (MSH6)	ENSP00000514751.1:n.628-3440_628-3439del
ENST00000700004.1:c.1154_1155del (MSH6)	ENSP00000514752.1:p.Ser385Ter
ENST00000234420.11:c.1997_1998del (MSH6) MANE Select	ENSP00000234420.5:p.Ser666Ter
ENST00000540021.6:c.1607_1608del (MSH6)	ENSP00000446475.1:p.Ser536Ter
ENST00000652107.1:c.1700_1701del (MSH6)	ENSP00000498629.1:p.Ser567Ter
ENST00000673637.1:c.1700_1701del (MSH6)	ENSP00000501310.1:p.Ser567Ter
ENST00000234420.9:c.1997_1998del (MSH6)	ENSP00000234420.4:p.Ser666Ter
ENST00000405808.5:c.169+8215_169+8216del (FBXO11)	ENSP00000385127.1:n.169+8215_169+8216del
ENST00000434234.5:c.*124+8014_*124+8015del (FBXO11)	ENSP00000402692.1:n.*124+8014_*124+8015del
ENST00000445503.5:c.*1344_*1345del (MSH6)	ENSP00000405294.1:n.*1344_*1345del
ENST00000538136.1:c.1091_1092del (MSH6)	ENSP00000438580.1:p.Ser364Ter
ENST00000540021.5:c.1607_1608del (MSH6)	ENSP00000446475.1:p.Ser536Ter
ENST00000614496.4:c.1091_1092del (MSH6)	ENSP00000477844.1:p.Ser364Ter
ENST00000616033.4:c.1994_1995del (MSH6)	ENSP00000480261.1:p.Ser665Ter
ENST00000622629.4:c.-1100_-1099del (MSH6)	ENSP00000482078.1:n.-1100_-1099del
NM_000179.2:c.1997_1998del , LRG_219t1:c.1997_1998del (MSH6)	NP_000170.1:p.Ser666Ter
NM_001281492.1:c.1607_1608del (MSH6)	NP_001268421.1:p.Ser536Ter
NM_001281493.1:c.1091_1092del (MSH6)	NP_001268422.1:p.Ser364Ter
NM_001281494.1:c.1091_1092del (MSH6)	NP_001268423.1:p.Ser364Ter
XM_005264271.1:c.1700_1701del (MSH6)	XP_005264328.1:p.Ser567Ter
XM_011532798.1:c.1814_1815del (MSH6)	XP_011531100.1:p.Ser605Ter
XM_011532799.1:c.1700_1701del (MSH6)	XP_011531101.1:p.Ser567Ter
XM_011532800.1:c.1700_1701del (MSH6)	XP_011531102.1:p.Ser567Ter
XM_024452819.1:c.1997_1998del (MSH6)	XP_024308587.1:p.Ser666Ter
XM_024452820.1:c.1814_1815del (MSH6)	XP_024308588.1:p.Ser605Ter
XM_024452821.1:c.1700_1701del (MSH6)	XP_024308589.1:p.Ser567Ter
XM_024452822.1:c.1091_1092del (MSH6)	XP_024308590.1:p.Ser364Ter
NM_000179.3:c.1997_1998del (MSH6) MANE Select	NP_000170.1:p.Ser666Ter
NM_001281492.2:c.1607_1608del (MSH6)	NP_001268421.1:p.Ser536Ter
NM_001281493.2:c.1091_1092del (MSH6)	NP_001268422.1:p.Ser364Ter
NM_001281494.2:c.1091_1092del (MSH6)	NP_001268423.1:p.Ser364Ter