Canonical Allele Identifier: CA658822267

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 455281
• ClinVar RCV Id: RCV000532396

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806295_47806316delinsTACTAATGAATGGTAGTGAGTT , CM000664.2:g.47806295_47806316delinsTACTAATGAATGGTAGTGAGTT	GRCh38
NC_000002.11:g.48033434_48033455delinsTACTAATGAATGGTAGTGAGTT , CM000664.1:g.48033434_48033455delinsTACTAATGAATGGTAGTGAGTT	GRCh37
NC_000002.10:g.47886938_47886959delinsTACTAATGAATGGTAGTGAGTT	NCBI36
NG_007111.1:g.28149_28170delinsTACTAATGAATGGTAGTGAGTT , LRG_219:g.28149_28170delinsTACTAATGAATGGTAGTGAGTT
NG_008397.1:g.104360_104381delinsAACTCACTACCATTCATTAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3441_3462delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000406248.2:p.Ser1149AsnfsTer4
ENST00000420813.6:c.3441_3462delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000390382.2:p.Ser1149AsnfsTer4
ENST00000455383.6:c.3441_3462delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000397484.2:p.Ser1149AsnfsTer4
ENST00000700004.2:c.3354_3375delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000514752.2:p.Ser1120AsnfsTer4
ENST00000699999.1:n.4412_4433delinsTACTAATGAATGGTAGTGAGTT (MSH6)
ENST00000700000.1:c.2172_2193delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000514749.1:p.Ser726AsnfsTer4
ENST00000700002.1:c.3744_3765delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000514750.1:p.Ser1250AsnfsTer4
ENST00000700003.1:c.1193_1214delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000514751.1:n.1193_1214delinsTACTAATGAATGGTAGTGAGTT
ENST00000700004.1:c.2511_2532delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000514752.1:p.Ser839AsnfsTer4
ENST00000700005.1:n.2589_2610delinsTACTAATGAATGGTAGTGAGTT (MSH6)
ENST00000700006.1:n.4896_4917delinsTACTAATGAATGGTAGTGAGTT (MSH6)
ENST00000700007.1:n.2333_2354delinsTACTAATGAATGGTAGTGAGTT (MSH6)
ENST00000700008.1:n.1907_1928delinsTACTAATGAATGGTAGTGAGTT (MSH6)
ENST00000700009.1:n.2402_2423delinsTACTAATGAATGGTAGTGAGTT (MSH6)
ENST00000700010.1:n.1147_1168delinsTACTAATGAATGGTAGTGAGTT (MSH6)
ENST00000700011.1:n.3032_3053delinsTACTAATGAATGGTAGTGAGTT (MSH6)
ENST00000682451.1:n.4432_4453delinsAACTCACTACCATTCATTAGTA (FBXO11)
ENST00000684712.1:n.4694_4715delinsAACTCACTACCATTCATTAGTA (FBXO11)
ENST00000234420.11:c.3738_3759delinsTACTAATGAATGGTAGTGAGTT (MSH6) MANE Select	ENSP00000234420.5:p.Ser1248AsnfsTer4
ENST00000540021.6:c.3348_3369delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000446475.1:p.Ser1118AsnfsTer4
ENST00000652107.1:c.3441_3462delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000498629.1:p.Ser1149AsnfsTer4
ENST00000673637.1:c.3441_3462delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000501310.1:p.Ser1149AsnfsTer4
ENST00000234420.9:c.3738_3759delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000234420.4:p.Ser1248AsnfsTer4
ENST00000405808.5:c.169+1879_169+1900delinsAACTCACTACCATTCATTAGTA (FBXO11)	ENSP00000385127.1:n.169+1879_169+1900delinsAACTCACTACCATTCATT...
ENST00000434234.5:c.*124+1678_*124+1699delinsAACTCACTACCATTCATTAGTA (FBXO11)	ENSP00000402692.1:n.*124+1678_*124+1699delinsAACTCACTACCATTCA...
ENST00000445503.5:c.*3085_*3106delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000405294.1:n.*3085_*3106delinsTACTAATGAATGGTAGTGAGTT
ENST00000538136.1:c.2832_2853delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000438580.1:p.Ser946AsnfsTer4
ENST00000540021.5:c.3348_3369delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000446475.1:p.Ser1118AsnfsTer4
ENST00000614496.4:c.2832_2853delinsTACTAATGAATGGTAGTGAGTT (MSH6)	ENSP00000477844.1:p.Ser946AsnfsTer4
ENST00000622629.4:c.642_661delinsTACTAATGAATGGTAGTGAGTT (MSH6)
NM_000179.2:c.3738_3759delinsTACTAATGAATGGTAGTGAGTT , LRG_219t1:c.3738_3759delinsTACTAATGAATGGTAGTGAGTT (MSH6)	NP_000170.1:p.Ser1248AsnfsTer4
NM_001281492.1:c.3348_3369delinsTACTAATGAATGGTAGTGAGTT (MSH6)	NP_001268421.1:p.Ser1118AsnfsTer4
NM_001281493.1:c.2832_2853delinsTACTAATGAATGGTAGTGAGTT (MSH6)	NP_001268422.1:p.Ser946AsnfsTer4
NM_001281494.1:c.2832_2853delinsTACTAATGAATGGTAGTGAGTT (MSH6)	NP_001268423.1:p.Ser946AsnfsTer4
XM_005264271.1:c.3441_3462delinsTACTAATGAATGGTAGTGAGTT (MSH6)	XP_005264328.1:p.Ser1149AsnfsTer4
XM_011532798.1:c.3555_3576delinsTACTAATGAATGGTAGTGAGTT (MSH6)	XP_011531100.1:p.Ser1187AsnfsTer4
XM_011532799.1:c.3441_3462delinsTACTAATGAATGGTAGTGAGTT (MSH6)	XP_011531101.1:p.Ser1149AsnfsTer4
XM_011532800.1:c.3441_3462delinsTACTAATGAATGGTAGTGAGTT (MSH6)	XP_011531102.1:p.Ser1149AsnfsTer4
XM_024452819.1:c.3738_3759delinsTACTAATGAATGGTAGTGAGTT (MSH6)	XP_024308587.1:p.Ser1248AsnfsTer4
XM_024452820.1:c.3555_3576delinsTACTAATGAATGGTAGTGAGTT (MSH6)	XP_024308588.1:p.Ser1187AsnfsTer4
XM_024452821.1:c.3441_3462delinsTACTAATGAATGGTAGTGAGTT (MSH6)	XP_024308589.1:p.Ser1149AsnfsTer4
XM_024452822.1:c.2832_2853delinsTACTAATGAATGGTAGTGAGTT (MSH6)	XP_024308590.1:p.Ser946AsnfsTer4
NM_000179.3:c.3738_3759delinsTACTAATGAATGGTAGTGAGTT (MSH6) MANE Select	NP_000170.1:p.Ser1248AsnfsTer4
NM_001281492.2:c.3348_3369delinsTACTAATGAATGGTAGTGAGTT (MSH6)	NP_001268421.1:p.Ser1118AsnfsTer4
NM_001281493.2:c.2832_2853delinsTACTAATGAATGGTAGTGAGTT (MSH6)	NP_001268422.1:p.Ser946AsnfsTer4
NM_001281494.2:c.2832_2853delinsTACTAATGAATGGTAGTGAGTT (MSH6)	NP_001268423.1:p.Ser946AsnfsTer4