Canonical Allele Identifier: CA658655735

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 483806
• ClinVar RCV Id: RCV000572340
• dbSNP Id: rs1553333031
• MyVariant Identifiers: chr2:g.48033395_48033401dup (hg19) ; chr2:g.47806256_47806262dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806256_47806262dup , CM000664.2:g.47806256_47806262dup	GRCh38
NC_000002.11:g.48033395_48033401dup , CM000664.1:g.48033395_48033401dup	GRCh37
NC_000002.10:g.47886899_47886905dup	NCBI36
NG_007111.1:g.28110_28116dup , LRG_219:g.28110_28116dup
NG_008397.1:g.104414_104420dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3402_3408dup (MSH6)	ENSP00000406248.2:p.Ala1137ArgfsTer4
ENST00000420813.6:c.3402_3408dup (MSH6)	ENSP00000390382.2:p.Ala1137ArgfsTer4
ENST00000455383.6:c.3402_3408dup (MSH6)	ENSP00000397484.2:p.Ala1137ArgfsTer4
ENST00000700004.2:c.3315_3321dup (MSH6)	ENSP00000514752.2:p.Ala1108ArgfsTer4
ENST00000699999.1:n.4373_4379dup (MSH6)
ENST00000700000.1:c.2133_2139dup (MSH6)	ENSP00000514749.1:p.Ala714ArgfsTer4
ENST00000700002.1:c.3705_3711dup (MSH6)	ENSP00000514750.1:p.Ala1238ArgfsTer4
ENST00000700003.1:c.1154_1160dup (MSH6)	ENSP00000514751.1:n.1154_1160dup
ENST00000700004.1:c.2472_2478dup (MSH6)	ENSP00000514752.1:p.Ala827ArgfsTer4
ENST00000700005.1:n.2550_2556dup (MSH6)
ENST00000700006.1:n.4857_4863dup (MSH6)
ENST00000700007.1:n.2294_2300dup (MSH6)
ENST00000700008.1:n.1868_1874dup (MSH6)
ENST00000700009.1:n.2363_2369dup (MSH6)
ENST00000700010.1:n.1108_1114dup (MSH6)
ENST00000700011.1:n.2993_2999dup (MSH6)
ENST00000682451.1:n.4486_4492dup (FBXO11)
ENST00000684712.1:n.4748_4754dup (FBXO11)
ENST00000234420.11:c.3699_3705dup (MSH6) MANE Select	ENSP00000234420.5:p.Ala1236ArgfsTer4
ENST00000540021.6:c.3309_3315dup (MSH6)	ENSP00000446475.1:p.Ala1106ArgfsTer4
ENST00000652107.1:c.3402_3408dup (MSH6)	ENSP00000498629.1:p.Ala1137ArgfsTer4
ENST00000673637.1:c.3402_3408dup (MSH6)	ENSP00000501310.1:p.Ala1137ArgfsTer4
ENST00000234420.9:c.3699_3705dup (MSH6)	ENSP00000234420.4:p.Ala1236ArgfsTer4
ENST00000405808.5:c.169+1933_169+1939dup (FBXO11)	ENSP00000385127.1:n.169+1933_169+1939dup
ENST00000434234.5:c.*124+1732_*124+1738dup (FBXO11)	ENSP00000402692.1:n.*124+1732_*124+1738dup
ENST00000445503.5:c.*3046_*3052dup (MSH6)	ENSP00000405294.1:n.*3046_*3052dup
ENST00000538136.1:c.2793_2799dup (MSH6)	ENSP00000438580.1:p.Ala934ArgfsTer4
ENST00000540021.5:c.3309_3315dup (MSH6)	ENSP00000446475.1:p.Ala1106ArgfsTer4
ENST00000614496.4:c.2793_2799dup (MSH6)	ENSP00000477844.1:p.Ala934ArgfsTer4
ENST00000622629.4:c.603_609dup (MSH6)	ENSP00000482078.1:p.Ala204ArgfsTer4
NM_000179.2:c.3699_3705dup , LRG_219t1:c.3699_3705dup (MSH6)	NP_000170.1:p.Ala1236ArgfsTer4
NM_001281492.1:c.3309_3315dup (MSH6)	NP_001268421.1:p.Ala1106ArgfsTer4
NM_001281493.1:c.2793_2799dup (MSH6)	NP_001268422.1:p.Ala934ArgfsTer4
NM_001281494.1:c.2793_2799dup (MSH6)	NP_001268423.1:p.Ala934ArgfsTer4
XM_005264271.1:c.3402_3408dup (MSH6)	XP_005264328.1:p.Ala1137ArgfsTer4
XM_011532798.1:c.3516_3522dup (MSH6)	XP_011531100.1:p.Ala1175ArgfsTer4
XM_011532799.1:c.3402_3408dup (MSH6)	XP_011531101.1:p.Ala1137ArgfsTer4
XM_011532800.1:c.3402_3408dup (MSH6)	XP_011531102.1:p.Ala1137ArgfsTer4
XM_024452819.1:c.3699_3705dup (MSH6)	XP_024308587.1:p.Ala1236ArgfsTer4
XM_024452820.1:c.3516_3522dup (MSH6)	XP_024308588.1:p.Ala1175ArgfsTer4
XM_024452821.1:c.3402_3408dup (MSH6)	XP_024308589.1:p.Ala1137ArgfsTer4
XM_024452822.1:c.2793_2799dup (MSH6)	XP_024308590.1:p.Ala934ArgfsTer4
NM_000179.3:c.3699_3705dup (MSH6) MANE Select	NP_000170.1:p.Ala1236ArgfsTer4
NM_001281492.2:c.3309_3315dup (MSH6)	NP_001268421.1:p.Ala1106ArgfsTer4
NM_001281493.2:c.2793_2799dup (MSH6)	NP_001268422.1:p.Ala934ArgfsTer4
NM_001281494.2:c.2793_2799dup (MSH6)	NP_001268423.1:p.Ala934ArgfsTer4