Canonical Allele Identifier: CA009593

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89242
• ClinVar RCV Id: RCV000074706 ; RCV000491528 ; RCV003450937 ; RCV003593869
• dbSNP Id: rs267608057
• MyVariant Identifiers: chr2:g.48027167_48027168del (hg19) ; chr2:g.47800028_47800029del (hg38)
• PubMed: PMID:18566915

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800028_47800029del , CM000664.2:g.47800028_47800029del	GRCh38
NC_000002.11:g.48027167_48027168del , CM000664.1:g.48027167_48027168del	GRCh37
NC_000002.10:g.47880671_47880672del	NCBI36
NG_007111.1:g.21882_21883del , LRG_219:g.21882_21883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1748_1749del (MSH6)	ENSP00000406248.2:p.Ser583CysfsTer15
ENST00000420813.6:c.1748_1749del (MSH6)	ENSP00000390382.2:p.Ser583CysfsTer15
ENST00000455383.6:c.1748_1749del (MSH6)	ENSP00000397484.2:p.Ser583CysfsTer15
ENST00000700004.2:c.2045_2046del (MSH6)	ENSP00000514752.2:p.Ser682CysfsTer15
ENST00000699999.1:n.2129_2130del (MSH6)
ENST00000700000.1:c.1606+439_1606+440del (MSH6)	ENSP00000514749.1:n.1606+439_1606+440del
ENST00000700002.1:c.2051_2052del (MSH6)	ENSP00000514750.1:p.Ser684CysfsTer15
ENST00000700003.1:c.628-3392_628-3391del (MSH6)	ENSP00000514751.1:n.628-3392_628-3391del
ENST00000700004.1:c.1202_1203del (MSH6)	ENSP00000514752.1:p.Ser401CysfsTer15
ENST00000234420.11:c.2045_2046del (MSH6) MANE Select	ENSP00000234420.5:p.Ser682CysfsTer15
ENST00000540021.6:c.1655_1656del (MSH6)	ENSP00000446475.1:p.Ser552CysfsTer15
ENST00000652107.1:c.1748_1749del (MSH6)	ENSP00000498629.1:p.Ser583CysfsTer15
ENST00000673637.1:c.1748_1749del (MSH6)	ENSP00000501310.1:p.Ser583CysfsTer15
ENST00000234420.9:c.2045_2046del (MSH6)	ENSP00000234420.4:p.Ser682CysfsTer15
ENST00000405808.5:c.169+8170_169+8171del (FBXO11)	ENSP00000385127.1:n.169+8170_169+8171del
ENST00000434234.5:c.*124+7969_*124+7970del (FBXO11)	ENSP00000402692.1:n.*124+7969_*124+7970del
ENST00000445503.5:c.*1392_*1393del (MSH6)	ENSP00000405294.1:n.*1392_*1393del
ENST00000538136.1:c.1139_1140del (MSH6)	ENSP00000438580.1:p.Ser380CysfsTer15
ENST00000540021.5:c.1655_1656del (MSH6)	ENSP00000446475.1:p.Ser552CysfsTer15
ENST00000614496.4:c.1139_1140del (MSH6)	ENSP00000477844.1:p.Ser380CysfsTer15
ENST00000616033.4:c.2042_2043del (MSH6)	ENSP00000480261.1:p.Ser681CysfsTer15
ENST00000622629.4:c.-1052_-1051del (MSH6)	ENSP00000482078.1:n.-1052_-1051del
NM_000179.2:c.2045_2046del , LRG_219t1:c.2045_2046del (MSH6)	NP_000170.1:p.Ser682CysfsTer15
NM_001281492.1:c.1655_1656del (MSH6)	NP_001268421.1:p.Ser552CysfsTer15
NM_001281493.1:c.1139_1140del (MSH6)	NP_001268422.1:p.Ser380CysfsTer15
NM_001281494.1:c.1139_1140del (MSH6)	NP_001268423.1:p.Ser380CysfsTer15
XM_005264271.1:c.1748_1749del (MSH6)	XP_005264328.1:p.Ser583CysfsTer15
XM_011532798.1:c.1862_1863del (MSH6)	XP_011531100.1:p.Ser621CysfsTer15
XM_011532799.1:c.1748_1749del (MSH6)	XP_011531101.1:p.Ser583CysfsTer15
XM_011532800.1:c.1748_1749del (MSH6)	XP_011531102.1:p.Ser583CysfsTer15
XM_024452819.1:c.2045_2046del (MSH6)	XP_024308587.1:p.Ser682CysfsTer15
XM_024452820.1:c.1862_1863del (MSH6)	XP_024308588.1:p.Ser621CysfsTer15
XM_024452821.1:c.1748_1749del (MSH6)	XP_024308589.1:p.Ser583CysfsTer15
XM_024452822.1:c.1139_1140del (MSH6)	XP_024308590.1:p.Ser380CysfsTer15
NM_000179.3:c.2045_2046del (MSH6) MANE Select	NP_000170.1:p.Ser682CysfsTer15
NM_001281492.2:c.1655_1656del (MSH6)	NP_001268421.1:p.Ser552CysfsTer15
NM_001281493.2:c.1139_1140del (MSH6)	NP_001268422.1:p.Ser380CysfsTer15
NM_001281494.2:c.1139_1140del (MSH6)	NP_001268423.1:p.Ser380CysfsTer15