Canonical Allele Identifier: CA2573051968

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1320038
• ClinVar RCV Id: RCV001775213
• dbSNP Id: rs2104378465

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799934_47799935dup , CM000664.2:g.47799934_47799935dup	GRCh38
NC_000002.11:g.48027073_48027074dup , CM000664.1:g.48027073_48027074dup	GRCh37
NC_000002.10:g.47880577_47880578dup	NCBI36
NG_007111.1:g.21788_21789dup , LRG_219:g.21788_21789dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1654_1655dup (MSH6)	ENSP00000406248.2:p.Gly553LeufsTer3
ENST00000420813.6:c.1654_1655dup (MSH6)	ENSP00000390382.2:p.Gly553LeufsTer3
ENST00000455383.6:c.1654_1655dup (MSH6)	ENSP00000397484.2:p.Gly553LeufsTer3
ENST00000700004.2:c.1951_1952dup (MSH6)	ENSP00000514752.2:p.Gly652LeufsTer3
ENST00000699999.1:n.2035_2036dup (MSH6)
ENST00000700000.1:c.1606+345_1606+346dup (MSH6)	ENSP00000514749.1:n.1606+345_1606+346dup
ENST00000700002.1:c.1957_1958dup (MSH6)	ENSP00000514750.1:p.Gly654LeufsTer3
ENST00000700003.1:c.628-3486_628-3485dup (MSH6)	ENSP00000514751.1:n.628-3486_628-3485dup
ENST00000700004.1:c.1108_1109dup (MSH6)	ENSP00000514752.1:p.Gly371LeufsTer3
ENST00000234420.11:c.1951_1952dup (MSH6) MANE Select	ENSP00000234420.5:p.Gly652LeufsTer3
ENST00000540021.6:c.1561_1562dup (MSH6)	ENSP00000446475.1:p.Gly522LeufsTer3
ENST00000652107.1:c.1654_1655dup (MSH6)	ENSP00000498629.1:p.Gly553LeufsTer3
ENST00000673637.1:c.1654_1655dup (MSH6)	ENSP00000501310.1:p.Gly553LeufsTer3
ENST00000234420.9:c.1951_1952dup (MSH6)	ENSP00000234420.4:p.Gly652LeufsTer3
ENST00000405808.5:c.169+8260_169+8261dup (FBXO11)	ENSP00000385127.1:n.169+8260_169+8261dup
ENST00000434234.5:c.*124+8059_*124+8060dup (FBXO11)	ENSP00000402692.1:n.*124+8059_*124+8060dup
ENST00000445503.5:c.*1298_*1299dup (MSH6)	ENSP00000405294.1:n.*1298_*1299dup
ENST00000538136.1:c.1045_1046dup (MSH6)	ENSP00000438580.1:p.Gly350LeufsTer3
ENST00000540021.5:c.1561_1562dup (MSH6)	ENSP00000446475.1:p.Gly522LeufsTer3
ENST00000614496.4:c.1045_1046dup (MSH6)	ENSP00000477844.1:p.Gly350LeufsTer3
ENST00000616033.4:c.1948_1949dup (MSH6)	ENSP00000480261.1:p.Gly651LeufsTer3
ENST00000622629.4:c.-1146_-1145dup (MSH6)	ENSP00000482078.1:n.-1146_-1145dup
NM_000179.2:c.1951_1952dup , LRG_219t1:c.1951_1952dup (MSH6)	NP_000170.1:p.Gly652LeufsTer3
NM_001281492.1:c.1561_1562dup (MSH6)	NP_001268421.1:p.Gly522LeufsTer3
NM_001281493.1:c.1045_1046dup (MSH6)	NP_001268422.1:p.Gly350LeufsTer3
NM_001281494.1:c.1045_1046dup (MSH6)	NP_001268423.1:p.Gly350LeufsTer3
XM_005264271.1:c.1654_1655dup (MSH6)	XP_005264328.1:p.Gly553LeufsTer3
XM_011532798.1:c.1768_1769dup (MSH6)	XP_011531100.1:p.Gly591LeufsTer3
XM_011532799.1:c.1654_1655dup (MSH6)	XP_011531101.1:p.Gly553LeufsTer3
XM_011532800.1:c.1654_1655dup (MSH6)	XP_011531102.1:p.Gly553LeufsTer3
XM_024452819.1:c.1951_1952dup (MSH6)	XP_024308587.1:p.Gly652LeufsTer3
XM_024452820.1:c.1768_1769dup (MSH6)	XP_024308588.1:p.Gly591LeufsTer3
XM_024452821.1:c.1654_1655dup (MSH6)	XP_024308589.1:p.Gly553LeufsTer3
XM_024452822.1:c.1045_1046dup (MSH6)	XP_024308590.1:p.Gly350LeufsTer3
NM_000179.3:c.1951_1952dup (MSH6) MANE Select	NP_000170.1:p.Gly652LeufsTer3
NM_001281492.2:c.1561_1562dup (MSH6)	NP_001268421.1:p.Gly522LeufsTer3
NM_001281493.2:c.1045_1046dup (MSH6)	NP_001268422.1:p.Gly350LeufsTer3
NM_001281494.2:c.1045_1046dup (MSH6)	NP_001268423.1:p.Gly350LeufsTer3