Canonical Allele Identifier: CA1139656978

Linked Data

ClinVar Variation Id: 937266
ClinVar RCV Id: RCV001206239
dbSNP Id: rs1670065671

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806345_47806353del , CM000664.2:g.47806345_47806353del GRCh38
NC_000002.11:g.48033484_48033492del , CM000664.1:g.48033484_48033492del GRCh37
NC_000002.10:g.47886988_47886996del NCBI36
NG_007111.1:g.28199_28207del , LRG_219:g.28199_28207del
NG_008397.1:g.104324_104332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3491_3499del (MSH6) ENSP00000406248.2:p.Arg1164_Gly1166del
ENST00000420813.6:c.3491_3499del (MSH6) ENSP00000390382.2:p.Arg1164_Gly1166del
ENST00000455383.6:c.3491_3499del (MSH6) ENSP00000397484.2:p.Arg1164_Gly1166del
ENST00000700004.2:c.3404_3412del (MSH6) ENSP00000514752.2:p.Arg1135_Gly1137del
ENST00000699999.1:n.4462_4470del (MSH6)
ENST00000700000.1:c.2222_2230del (MSH6) ENSP00000514749.1:p.Arg741_Gly743del
ENST00000700002.1:c.3794_3802del (MSH6) ENSP00000514750.1:p.Arg1265_Gly1267del
ENST00000700003.1:c.1243_1251del (MSH6) ENSP00000514751.1:n.1243_1251del
ENST00000700004.1:c.2561_2569del (MSH6) ENSP00000514752.1:p.Arg854_Gly856del
ENST00000700005.1:n.2639_2647del (MSH6)
ENST00000700006.1:n.4946_4954del (MSH6)
ENST00000700007.1:n.2383_2391del (MSH6)
ENST00000700008.1:n.1957_1965del (MSH6)
ENST00000700009.1:n.2452_2460del (MSH6)
ENST00000700010.1:n.1197_1205del (MSH6)
ENST00000700011.1:n.3082_3090del (MSH6)
ENST00000682451.1:n.4396_4404del (FBXO11)
ENST00000684712.1:n.4658_4666del (FBXO11)
ENST00000234420.11:c.3788_3796del (MSH6) MANE Select ENSP00000234420.5:p.Arg1263_Gly1265del
ENST00000540021.6:c.3398_3406del (MSH6) ENSP00000446475.1:p.Arg1133_Gly1135del
ENST00000652107.1:c.3491_3499del (MSH6) ENSP00000498629.1:p.Arg1164_Gly1166del
ENST00000673637.1:c.3491_3499del (MSH6) ENSP00000501310.1:p.Arg1164_Gly1166del
ENST00000234420.9:c.3788_3796del (MSH6) ENSP00000234420.4:p.Arg1263_Gly1265del
ENST00000405808.5:c.169+1843_169+1851del (FBXO11) ENSP00000385127.1:n.169+1843_169+1851del
ENST00000434234.5:c.*124+1642_*124+1650del (FBXO11) ENSP00000402692.1:n.*124+1642_*124+1650del
ENST00000445503.5:c.*3135_*3143del (MSH6) ENSP00000405294.1:n.*3135_*3143del
ENST00000538136.1:c.2882_2890del (MSH6) ENSP00000438580.1:p.Arg961_Gly963del
ENST00000540021.5:c.3398_3406del (MSH6) ENSP00000446475.1:p.Arg1133_Gly1135del
ENST00000614496.4:c.2882_2890del (MSH6) ENSP00000477844.1:p.Arg961_Gly963del
ENST00000622629.4:c.690_697del (MSH6)
NM_000179.2:c.3788_3796del , LRG_219t1:c.3788_3796del (MSH6) NP_000170.1:p.Arg1263_Gly1265del
NM_001281492.1:c.3398_3406del (MSH6) NP_001268421.1:p.Arg1133_Gly1135del
NM_001281493.1:c.2882_2890del (MSH6) NP_001268422.1:p.Arg961_Gly963del
NM_001281494.1:c.2882_2890del (MSH6) NP_001268423.1:p.Arg961_Gly963del
XM_005264271.1:c.3491_3499del (MSH6) XP_005264328.1:p.Arg1164_Gly1166del
XM_011532798.1:c.3605_3613del (MSH6) XP_011531100.1:p.Arg1202_Gly1204del
XM_011532799.1:c.3491_3499del (MSH6) XP_011531101.1:p.Arg1164_Gly1166del
XM_011532800.1:c.3491_3499del (MSH6) XP_011531102.1:p.Arg1164_Gly1166del
XM_024452819.1:c.3788_3796del (MSH6) XP_024308587.1:p.Arg1263_Gly1265del
XM_024452820.1:c.3605_3613del (MSH6) XP_024308588.1:p.Arg1202_Gly1204del
XM_024452821.1:c.3491_3499del (MSH6) XP_024308589.1:p.Arg1164_Gly1166del
XM_024452822.1:c.2882_2890del (MSH6) XP_024308590.1:p.Arg961_Gly963del
NM_000179.3:c.3788_3796del (MSH6) MANE Select NP_000170.1:p.Arg1263_Gly1265del
NM_001281492.2:c.3398_3406del (MSH6) NP_001268421.1:p.Arg1133_Gly1135del
NM_001281493.2:c.2882_2890del (MSH6) NP_001268422.1:p.Arg961_Gly963del
NM_001281494.2:c.2882_2890del (MSH6) NP_001268423.1:p.Arg961_Gly963del