Canonical Allele Identifier: CA2499216117

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1072512
• ClinVar RCV Id: RCV001385245 ; RCV004037671
• dbSNP Id: rs2104405276

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800396dup , CM000664.2:g.47800396dup	GRCh38
NC_000002.11:g.48027535dup , CM000664.1:g.48027535dup	GRCh37
NC_000002.10:g.47881039dup	NCBI36
NG_007111.1:g.22250dup , LRG_219:g.22250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2116dup (MSH6)	ENSP00000406248.2:p.Ile706AsnfsTer15
ENST00000420813.6:c.2116dup (MSH6)	ENSP00000390382.2:p.Ile706AsnfsTer15
ENST00000455383.6:c.2116dup (MSH6)	ENSP00000397484.2:p.Ile706AsnfsTer15
ENST00000700004.2:c.2413dup (MSH6)	ENSP00000514752.2:p.Ile805AsnfsTer15
ENST00000699999.1:n.2497dup (MSH6)
ENST00000700000.1:c.1606+807dup (MSH6)	ENSP00000514749.1:n.1606+807dup
ENST00000700002.1:c.2419dup (MSH6)	ENSP00000514750.1:p.Ile807AsnfsTer15
ENST00000700003.1:c.628-3024dup (MSH6)	ENSP00000514751.1:n.628-3024dup
ENST00000700004.1:c.1570dup (MSH6)	ENSP00000514752.1:p.Ile524AsnfsTer15
ENST00000234420.11:c.2413dup (MSH6) MANE Select	ENSP00000234420.5:p.Ile805AsnfsTer15
ENST00000540021.6:c.2023dup (MSH6)	ENSP00000446475.1:p.Ile675AsnfsTer15
ENST00000652107.1:c.2116dup (MSH6)	ENSP00000498629.1:p.Ile706AsnfsTer15
ENST00000673637.1:c.2116dup (MSH6)	ENSP00000501310.1:p.Ile706AsnfsTer15
ENST00000234420.9:c.2413dup (MSH6)	ENSP00000234420.4:p.Ile805AsnfsTer15
ENST00000405808.5:c.169+7802dup (FBXO11)	ENSP00000385127.1:n.169+7802dup
ENST00000434234.5:c.*124+7601dup (FBXO11)	ENSP00000402692.1:n.*124+7601dup
ENST00000445503.5:c.*1760dup (MSH6)	ENSP00000405294.1:n.*1760dup
ENST00000538136.1:c.1507dup (MSH6)	ENSP00000438580.1:p.Ile503AsnfsTer15
ENST00000540021.5:c.2023dup (MSH6)	ENSP00000446475.1:p.Ile675AsnfsTer15
ENST00000614496.4:c.1507dup (MSH6)	ENSP00000477844.1:p.Ile503AsnfsTer15
ENST00000616033.4:c.2410dup (MSH6)	ENSP00000480261.1:p.Ile804AsnfsTer15
ENST00000622629.4:c.-684dup (MSH6)	ENSP00000482078.1:n.-684dup
NM_000179.2:c.2413dup , LRG_219t1:c.2413dup (MSH6)	NP_000170.1:p.Ile805AsnfsTer15
NM_001281492.1:c.2023dup (MSH6)	NP_001268421.1:p.Ile675AsnfsTer15
NM_001281493.1:c.1507dup (MSH6)	NP_001268422.1:p.Ile503AsnfsTer15
NM_001281494.1:c.1507dup (MSH6)	NP_001268423.1:p.Ile503AsnfsTer15
XM_005264271.1:c.2116dup (MSH6)	XP_005264328.1:p.Ile706AsnfsTer15
XM_011532798.1:c.2230dup (MSH6)	XP_011531100.1:p.Ile744AsnfsTer15
XM_011532799.1:c.2116dup (MSH6)	XP_011531101.1:p.Ile706AsnfsTer15
XM_011532800.1:c.2116dup (MSH6)	XP_011531102.1:p.Ile706AsnfsTer15
XM_024452819.1:c.2413dup (MSH6)	XP_024308587.1:p.Ile805AsnfsTer15
XM_024452820.1:c.2230dup (MSH6)	XP_024308588.1:p.Ile744AsnfsTer15
XM_024452821.1:c.2116dup (MSH6)	XP_024308589.1:p.Ile706AsnfsTer15
XM_024452822.1:c.1507dup (MSH6)	XP_024308590.1:p.Ile503AsnfsTer15
NM_000179.3:c.2413dup (MSH6) MANE Select	NP_000170.1:p.Ile805AsnfsTer15
NM_001281492.2:c.2023dup (MSH6)	NP_001268421.1:p.Ile675AsnfsTer15
NM_001281493.2:c.1507dup (MSH6)	NP_001268422.1:p.Ile503AsnfsTer15
NM_001281494.2:c.1507dup (MSH6)	NP_001268423.1:p.Ile503AsnfsTer15