Canonical Allele Identifier: CA2580067475

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1981322
• ClinVar RCV Id: RCV003167729 ; RCV003455570 ; RCV002780483

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806579_47806588del , CM000664.2:g.47806579_47806588del	GRCh38
NC_000002.11:g.48033718_48033727del , CM000664.1:g.48033718_48033727del	GRCh37
NC_000002.10:g.47887222_47887231del	NCBI36
NG_007111.1:g.28433_28442del , LRG_219:g.28433_28442del
NG_008397.1:g.104088_104097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3632_3641del (MSH6)	ENSP00000406248.2:p.Glu1211ValfsTer14
ENST00000420813.6:c.3632_3641del (MSH6)	ENSP00000390382.2:p.Glu1211ValfsTer14
ENST00000455383.6:c.3632_3641del (MSH6)	ENSP00000397484.2:p.Glu1211ValfsTer14
ENST00000700004.2:c.3545_3554del (MSH6)	ENSP00000514752.2:p.Glu1182ValfsTer14
ENST00000699999.1:n.4603_4612del (MSH6)
ENST00000700000.1:c.2363_2372del (MSH6)	ENSP00000514749.1:p.Glu788ValfsTer14
ENST00000700002.1:c.3935_3944del (MSH6)	ENSP00000514750.1:p.Glu1312ValfsTer14
ENST00000700003.1:c.1384_1393del (MSH6)	ENSP00000514751.1:n.1384_1393del
ENST00000700004.1:c.2702_2711del (MSH6)	ENSP00000514752.1:p.Glu901ValfsTer14
ENST00000700005.1:n.2780_2789del (MSH6)
ENST00000700006.1:n.5087_5096del (MSH6)
ENST00000700007.1:n.2524_2533del (MSH6)
ENST00000700008.1:n.2191_2200del (MSH6)
ENST00000700009.1:n.2593_2602del (MSH6)
ENST00000700010.1:n.1338_1347del (MSH6)
ENST00000700011.1:n.3223_3232del (MSH6)
ENST00000682451.1:n.4160_4169del (FBXO11)
ENST00000684712.1:n.4422_4431del (FBXO11)
ENST00000234420.11:c.3929_3938del (MSH6) MANE Select	ENSP00000234420.5:p.Glu1310ValfsTer14
ENST00000540021.6:c.3539_3548del (MSH6)	ENSP00000446475.1:p.Glu1180ValfsTer14
ENST00000652107.1:c.3632_3641del (MSH6)	ENSP00000498629.1:p.Glu1211ValfsTer14
ENST00000673637.1:c.3632_3641del (MSH6)	ENSP00000501310.1:p.Glu1211ValfsTer14
ENST00000234420.9:c.3929_3938del (MSH6)	ENSP00000234420.4:p.Glu1310ValfsTer14
ENST00000405808.5:c.169+1607_169+1616del (FBXO11)	ENSP00000385127.1:n.169+1607_169+1616del
ENST00000434234.5:c.*124+1406_*124+1415del (FBXO11)	ENSP00000402692.1:n.*124+1406_*124+1415del
ENST00000445503.5:c.*3276_*3285del (MSH6)	ENSP00000405294.1:n.*3276_*3285del
ENST00000538136.1:c.3023_3032del (MSH6)	ENSP00000438580.1:p.Glu1008ValfsTer14
ENST00000540021.5:c.3539_3548del (MSH6)	ENSP00000446475.1:p.Glu1180ValfsTer14
ENST00000614496.4:c.3023_3032del (MSH6)	ENSP00000477844.1:p.Glu1008ValfsTer14
ENST00000622629.4:c.830_839del (MSH6)	ENSP00000482078.1:p.Glu277ValfsTer14
NM_000179.2:c.3929_3938del , LRG_219t1:c.3929_3938del (MSH6)	NP_000170.1:p.Glu1310ValfsTer14
NM_001281492.1:c.3539_3548del (MSH6)	NP_001268421.1:p.Glu1180ValfsTer14
NM_001281493.1:c.3023_3032del (MSH6)	NP_001268422.1:p.Glu1008ValfsTer14
NM_001281494.1:c.3023_3032del (MSH6)	NP_001268423.1:p.Glu1008ValfsTer14
XM_005264271.1:c.3632_3641del (MSH6)	XP_005264328.1:p.Glu1211ValfsTer14
XM_011532798.1:c.3746_3755del (MSH6)	XP_011531100.1:p.Glu1249ValfsTer14
XM_011532799.1:c.3632_3641del (MSH6)	XP_011531101.1:p.Glu1211ValfsTer14
XM_011532800.1:c.3632_3641del (MSH6)	XP_011531102.1:p.Glu1211ValfsTer14
XM_024452819.1:c.4022_4031del (MSH6)	XP_024308587.1:p.Glu1341ValfsTer14
XM_024452820.1:c.3839_3848del (MSH6)	XP_024308588.1:p.Glu1280ValfsTer14
XM_024452821.1:c.3725_3734del (MSH6)	XP_024308589.1:p.Glu1242ValfsTer14
XM_024452822.1:c.3116_3125del (MSH6)	XP_024308590.1:p.Glu1039ValfsTer14
NM_000179.3:c.3929_3938del (MSH6) MANE Select	NP_000170.1:p.Glu1310ValfsTer14
NM_001281492.2:c.3539_3548del (MSH6)	NP_001268421.1:p.Glu1180ValfsTer14
NM_001281493.2:c.3023_3032del (MSH6)	NP_001268422.1:p.Glu1008ValfsTer14
NM_001281494.2:c.3023_3032del (MSH6)	NP_001268423.1:p.Glu1008ValfsTer14