Canonical Allele Identifier: CA891843284

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 571250
• ClinVar RCV Id: RCV000692346
• dbSNP Id: rs1558394104
• MyVariant Identifiers: chr2:g.48033719_48033767dup (hg19) ; chr2:g.47806580_47806628dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806580_47806628dup , CM000664.2:g.47806580_47806628dup	GRCh38
NC_000002.11:g.48033719_48033767dup , CM000664.1:g.48033719_48033767dup	GRCh37
NC_000002.10:g.47887223_47887271dup	NCBI36
NG_007111.1:g.28434_28482dup , LRG_219:g.28434_28482dup
NG_008397.1:g.104048_104096dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3633_3681dup (MSH6)	ENSP00000406248.2:p.Asn1228GlyfsTer8
ENST00000420813.6:c.3633_3681dup (MSH6)	ENSP00000390382.2:p.Asn1228GlyfsTer8
ENST00000455383.6:c.3633_3681dup (MSH6)	ENSP00000397484.2:p.Asn1228GlyfsTer8
ENST00000700004.2:c.3546_3594dup (MSH6)	ENSP00000514752.2:p.Asn1199GlyfsTer8
ENST00000699999.1:n.4604_4652dup (MSH6)
ENST00000700000.1:c.2364_2412dup (MSH6)	ENSP00000514749.1:p.Asn805GlyfsTer8
ENST00000700002.1:c.3936_3984dup (MSH6)	ENSP00000514750.1:p.Asn1329GlyfsTer8
ENST00000700003.1:c.1385_1433dup (MSH6)	ENSP00000514751.1:n.1385_1433dup
ENST00000700004.1:c.2703_2751dup (MSH6)	ENSP00000514752.1:p.Asn918GlyfsTer8
ENST00000700005.1:n.2781_2829dup (MSH6)
ENST00000700006.1:n.5088_5136dup (MSH6)
ENST00000700007.1:n.2525_2573dup (MSH6)
ENST00000700008.1:n.2192_2240dup (MSH6)
ENST00000700009.1:n.2594_2642dup (MSH6)
ENST00000700010.1:n.1339_1387dup (MSH6)
ENST00000700011.1:n.3224_3272dup (MSH6)
ENST00000682451.1:n.4120_4168dup (FBXO11)
ENST00000684712.1:n.4382_4430dup (FBXO11)
ENST00000234420.11:c.3930_3978dup (MSH6) MANE Select	ENSP00000234420.5:p.Asn1327GlyfsTer8
ENST00000540021.6:c.3540_3588dup (MSH6)	ENSP00000446475.1:p.Asn1197GlyfsTer8
ENST00000652107.1:c.3633_3681dup (MSH6)	ENSP00000498629.1:p.Asn1228GlyfsTer8
ENST00000673637.1:c.3633_3681dup (MSH6)	ENSP00000501310.1:p.Asn1228GlyfsTer8
ENST00000234420.9:c.3930_3978dup (MSH6)	ENSP00000234420.4:p.Asn1327GlyfsTer8
ENST00000405808.5:c.169+1567_169+1615dup (FBXO11)	ENSP00000385127.1:n.169+1567_169+1615dup
ENST00000434234.5:c.*124+1366_*124+1414dup (FBXO11)	ENSP00000402692.1:n.*124+1366_*124+1414dup
ENST00000445503.5:c.*3277_*3325dup (MSH6)	ENSP00000405294.1:n.*3277_*3325dup
ENST00000538136.1:c.3024_3072dup (MSH6)	ENSP00000438580.1:p.Asn1025GlyfsTer8
ENST00000540021.5:c.3540_3588dup (MSH6)	ENSP00000446475.1:p.Asn1197GlyfsTer8
ENST00000614496.4:c.3024_3072dup (MSH6)	ENSP00000477844.1:p.Asn1025GlyfsTer8
ENST00000622629.4:c.831_879dup (MSH6)	ENSP00000482078.1:p.Asn294GlyfsTer8
NM_000179.2:c.3930_3978dup , LRG_219t1:c.3930_3978dup (MSH6)	NP_000170.1:p.Asn1327GlyfsTer8
NM_001281492.1:c.3540_3588dup (MSH6)	NP_001268421.1:p.Asn1197GlyfsTer8
NM_001281493.1:c.3024_3072dup (MSH6)	NP_001268422.1:p.Asn1025GlyfsTer8
NM_001281494.1:c.3024_3072dup (MSH6)	NP_001268423.1:p.Asn1025GlyfsTer8
XM_005264271.1:c.3633_3681dup (MSH6)	XP_005264328.1:p.Asn1228GlyfsTer8
XM_011532798.1:c.3747_3795dup (MSH6)	XP_011531100.1:p.Asn1266GlyfsTer8
XM_011532799.1:c.3633_3681dup (MSH6)	XP_011531101.1:p.Asn1228GlyfsTer8
XM_011532800.1:c.3633_3681dup (MSH6)	XP_011531102.1:p.Asn1228GlyfsTer8
XM_024452819.1:c.4023_4071dup (MSH6)	XP_024308587.1:p.Asn1358GlyfsTer8
XM_024452820.1:c.3840_3888dup (MSH6)	XP_024308588.1:p.Asn1297GlyfsTer8
XM_024452821.1:c.3726_3774dup (MSH6)	XP_024308589.1:p.Asn1259GlyfsTer8
XM_024452822.1:c.3117_3165dup (MSH6)	XP_024308590.1:p.Asn1056GlyfsTer8
NM_000179.3:c.3930_3978dup (MSH6) MANE Select	NP_000170.1:p.Asn1327GlyfsTer8
NM_001281492.2:c.3540_3588dup (MSH6)	NP_001268421.1:p.Asn1197GlyfsTer8
NM_001281493.2:c.3024_3072dup (MSH6)	NP_001268422.1:p.Asn1025GlyfsTer8
NM_001281494.2:c.3024_3072dup (MSH6)	NP_001268423.1:p.Asn1025GlyfsTer8