Canonical Allele Identifier: CA645372557

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 433928
• ClinVar RCV Id: RCV000501467 ; RCV001197204 ; RCV002527181 ; RCV003449412
• dbSNP Id: rs1553333598
• MyVariant Identifiers: chr2:g.48033711_48033729dup (hg19) ; chr2:g.47806572_47806590dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806572_47806590dup , CM000664.2:g.47806572_47806590dup	GRCh38
NC_000002.11:g.48033711_48033729dup , CM000664.1:g.48033711_48033729dup	GRCh37
NC_000002.10:g.47887215_47887233dup	NCBI36
NG_007111.1:g.28426_28444dup , LRG_219:g.28426_28444dup
NG_008397.1:g.104086_104104dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3625_3643dup (MSH6)	ENSP00000406248.2:p.Gln1215ProfsTer11
ENST00000420813.6:c.3625_3643dup (MSH6)	ENSP00000390382.2:p.Gln1215ProfsTer11
ENST00000455383.6:c.3625_3643dup (MSH6)	ENSP00000397484.2:p.Gln1215ProfsTer11
ENST00000700004.2:c.3538_3556dup (MSH6)	ENSP00000514752.2:p.Gln1186ProfsTer11
ENST00000699999.1:n.4596_4614dup (MSH6)
ENST00000700000.1:c.2356_2374dup (MSH6)	ENSP00000514749.1:p.Gln792ProfsTer11
ENST00000700002.1:c.3928_3946dup (MSH6)	ENSP00000514750.1:p.Gln1316ProfsTer11
ENST00000700003.1:c.1377_1395dup (MSH6)	ENSP00000514751.1:n.1377_1395dup
ENST00000700004.1:c.2695_2713dup (MSH6)	ENSP00000514752.1:p.Gln905ProfsTer11
ENST00000700005.1:n.2773_2791dup (MSH6)
ENST00000700006.1:n.5080_5098dup (MSH6)
ENST00000700007.1:n.2517_2535dup (MSH6)
ENST00000700008.1:n.2184_2202dup (MSH6)
ENST00000700009.1:n.2586_2604dup (MSH6)
ENST00000700010.1:n.1331_1349dup (MSH6)
ENST00000700011.1:n.3216_3234dup (MSH6)
ENST00000682451.1:n.4158_4176dup (FBXO11)
ENST00000684712.1:n.4420_4438dup (FBXO11)
ENST00000234420.11:c.3922_3940dup (MSH6) MANE Select	ENSP00000234420.5:p.Gln1314ProfsTer11
ENST00000540021.6:c.3532_3550dup (MSH6)	ENSP00000446475.1:p.Gln1184ProfsTer11
ENST00000652107.1:c.3625_3643dup (MSH6)	ENSP00000498629.1:p.Gln1215ProfsTer11
ENST00000673637.1:c.3625_3643dup (MSH6)	ENSP00000501310.1:p.Gln1215ProfsTer11
ENST00000234420.9:c.3922_3940dup (MSH6)	ENSP00000234420.4:p.Gln1314ProfsTer11
ENST00000405808.5:c.169+1605_169+1623dup (FBXO11)	ENSP00000385127.1:n.169+1605_169+1623dup
ENST00000434234.5:c.*124+1404_*124+1422dup (FBXO11)	ENSP00000402692.1:n.*124+1404_*124+1422dup
ENST00000445503.5:c.*3269_*3287dup (MSH6)	ENSP00000405294.1:n.*3269_*3287dup
ENST00000538136.1:c.3016_3034dup (MSH6)	ENSP00000438580.1:p.Gln1012ProfsTer11
ENST00000540021.5:c.3532_3550dup (MSH6)	ENSP00000446475.1:p.Gln1184ProfsTer11
ENST00000614496.4:c.3016_3034dup (MSH6)	ENSP00000477844.1:p.Gln1012ProfsTer11
ENST00000622629.4:c.823_841dup (MSH6)	ENSP00000482078.1:p.Gln281ProfsTer11
NM_000179.2:c.3922_3940dup , LRG_219t1:c.3922_3940dup (MSH6)	NP_000170.1:p.Gln1314ProfsTer11
NM_001281492.1:c.3532_3550dup (MSH6)	NP_001268421.1:p.Gln1184ProfsTer11
NM_001281493.1:c.3016_3034dup (MSH6)	NP_001268422.1:p.Gln1012ProfsTer11
NM_001281494.1:c.3016_3034dup (MSH6)	NP_001268423.1:p.Gln1012ProfsTer11
XM_005264271.1:c.3625_3643dup (MSH6)	XP_005264328.1:p.Gln1215ProfsTer11
XM_011532798.1:c.3739_3757dup (MSH6)	XP_011531100.1:p.Gln1253ProfsTer11
XM_011532799.1:c.3625_3643dup (MSH6)	XP_011531101.1:p.Gln1215ProfsTer11
XM_011532800.1:c.3625_3643dup (MSH6)	XP_011531102.1:p.Gln1215ProfsTer11
XM_024452819.1:c.4015_4033dup (MSH6)	XP_024308587.1:p.Gln1345ProfsTer11
XM_024452820.1:c.3832_3850dup (MSH6)	XP_024308588.1:p.Gln1284ProfsTer11
XM_024452821.1:c.3718_3736dup (MSH6)	XP_024308589.1:p.Gln1246ProfsTer11
XM_024452822.1:c.3109_3127dup (MSH6)	XP_024308590.1:p.Gln1043ProfsTer11
NM_000179.3:c.3922_3940dup (MSH6) MANE Select	NP_000170.1:p.Gln1314ProfsTer11
NM_001281492.2:c.3532_3550dup (MSH6)	NP_001268421.1:p.Gln1184ProfsTer11
NM_001281493.2:c.3016_3034dup (MSH6)	NP_001268422.1:p.Gln1012ProfsTer11
NM_001281494.2:c.3016_3034dup (MSH6)	NP_001268423.1:p.Gln1012ProfsTer11