Canonical Allele Identifier: CA2739274380

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2851341
• ClinVar RCV Id: RCV003758622

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806285_47806289dup , CM000664.2:g.47806285_47806289dup	GRCh38
NC_000002.11:g.48033424_48033428dup , CM000664.1:g.48033424_48033428dup	GRCh37
NC_000002.10:g.47886928_47886932dup	NCBI36
NG_007111.1:g.28139_28143dup , LRG_219:g.28139_28143dup
NG_008397.1:g.104389_104393dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3431_3435dup (MSH6)	ENSP00000406248.2:p.Phe1146HisfsTer10
ENST00000420813.6:c.3431_3435dup (MSH6)	ENSP00000390382.2:p.Phe1146HisfsTer10
ENST00000455383.6:c.3431_3435dup (MSH6)	ENSP00000397484.2:p.Phe1146HisfsTer10
ENST00000700004.2:c.3344_3348dup (MSH6)	ENSP00000514752.2:p.Phe1117HisfsTer10
ENST00000699999.1:n.4402_4406dup (MSH6)
ENST00000700000.1:c.2162_2166dup (MSH6)	ENSP00000514749.1:p.Phe723HisfsTer10
ENST00000700002.1:c.3734_3738dup (MSH6)	ENSP00000514750.1:p.Phe1247HisfsTer10
ENST00000700003.1:c.1183_1187dup (MSH6)	ENSP00000514751.1:n.1183_1187dup
ENST00000700004.1:c.2501_2505dup (MSH6)	ENSP00000514752.1:p.Phe836HisfsTer10
ENST00000700005.1:n.2579_2583dup (MSH6)
ENST00000700006.1:n.4886_4890dup (MSH6)
ENST00000700007.1:n.2323_2327dup (MSH6)
ENST00000700008.1:n.1897_1901dup (MSH6)
ENST00000700009.1:n.2392_2396dup (MSH6)
ENST00000700010.1:n.1137_1141dup (MSH6)
ENST00000700011.1:n.3022_3026dup (MSH6)
ENST00000682451.1:n.4461_4465dup (FBXO11)
ENST00000684712.1:n.4723_4727dup (FBXO11)
ENST00000234420.11:c.3728_3732dup (MSH6) MANE Select	ENSP00000234420.5:p.Phe1245HisfsTer10
ENST00000540021.6:c.3338_3342dup (MSH6)	ENSP00000446475.1:p.Phe1115HisfsTer10
ENST00000652107.1:c.3431_3435dup (MSH6)	ENSP00000498629.1:p.Phe1146HisfsTer10
ENST00000673637.1:c.3431_3435dup (MSH6)	ENSP00000501310.1:p.Phe1146HisfsTer10
ENST00000234420.9:c.3728_3732dup (MSH6)	ENSP00000234420.4:p.Phe1245HisfsTer10
ENST00000405808.5:c.169+1908_169+1912dup (FBXO11)	ENSP00000385127.1:n.169+1908_169+1912dup
ENST00000434234.5:c.*124+1707_*124+1711dup (FBXO11)	ENSP00000402692.1:n.*124+1707_*124+1711dup
ENST00000445503.5:c.*3075_*3079dup (MSH6)	ENSP00000405294.1:n.*3075_*3079dup
ENST00000538136.1:c.2822_2826dup (MSH6)	ENSP00000438580.1:p.Phe943HisfsTer10
ENST00000540021.5:c.3338_3342dup (MSH6)	ENSP00000446475.1:p.Phe1115HisfsTer10
ENST00000614496.4:c.2822_2826dup (MSH6)	ENSP00000477844.1:p.Phe943HisfsTer10
ENST00000622629.4:c.632_636dup (MSH6)	ENSP00000482078.1:p.Phe213HisfsTer21
NM_000179.2:c.3728_3732dup , LRG_219t1:c.3728_3732dup (MSH6)	NP_000170.1:p.Phe1245HisfsTer10
NM_001281492.1:c.3338_3342dup (MSH6)	NP_001268421.1:p.Phe1115HisfsTer10
NM_001281493.1:c.2822_2826dup (MSH6)	NP_001268422.1:p.Phe943HisfsTer10
NM_001281494.1:c.2822_2826dup (MSH6)	NP_001268423.1:p.Phe943HisfsTer10
XM_005264271.1:c.3431_3435dup (MSH6)	XP_005264328.1:p.Phe1146HisfsTer10
XM_011532798.1:c.3545_3549dup (MSH6)	XP_011531100.1:p.Phe1184HisfsTer10
XM_011532799.1:c.3431_3435dup (MSH6)	XP_011531101.1:p.Phe1146HisfsTer10
XM_011532800.1:c.3431_3435dup (MSH6)	XP_011531102.1:p.Phe1146HisfsTer10
XM_024452819.1:c.3728_3732dup (MSH6)	XP_024308587.1:p.Phe1245HisfsTer10
XM_024452820.1:c.3545_3549dup (MSH6)	XP_024308588.1:p.Phe1184HisfsTer10
XM_024452821.1:c.3431_3435dup (MSH6)	XP_024308589.1:p.Phe1146HisfsTer10
XM_024452822.1:c.2822_2826dup (MSH6)	XP_024308590.1:p.Phe943HisfsTer10
NM_000179.3:c.3728_3732dup (MSH6) MANE Select	NP_000170.1:p.Phe1245HisfsTer10
NM_001281492.2:c.3338_3342dup (MSH6)	NP_001268421.1:p.Phe1115HisfsTer10
NM_001281493.2:c.2822_2826dup (MSH6)	NP_001268422.1:p.Phe943HisfsTer10
NM_001281494.2:c.2822_2826dup (MSH6)	NP_001268423.1:p.Phe943HisfsTer10