Canonical Allele Identifier: CA913187469

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803571del , CM000664.2:g.47803571del GRCh38
NC_000002.11:g.48030710del , CM000664.1:g.48030710del GRCh37
NC_000002.10:g.47884214del NCBI36
NG_007111.1:g.25425del , LRG_219:g.25425del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3027del (MSH6) ENSP00000406248.2:p.Phe1009LeufsTer7
ENST00000420813.6:c.3027del (MSH6) ENSP00000390382.2:p.Phe1009LeufsTer7
ENST00000455383.6:c.3027del (MSH6) ENSP00000397484.2:p.Phe1009LeufsTer7
ENST00000700004.2:c.3173-2047del (MSH6) ENSP00000514752.2:n.3173-2047del
ENST00000699999.1:n.3408del (MSH6)
ENST00000700000.1:c.1758del (MSH6) ENSP00000514749.1:p.Phe586LeufsTer7
ENST00000700002.1:c.3330del (MSH6) ENSP00000514750.1:p.Phe1110LeufsTer7
ENST00000700003.1:c.779del (MSH6) ENSP00000514751.1:n.779del
ENST00000700004.1:c.2330-2047del (MSH6) ENSP00000514752.1:n.2330-2047del
ENST00000700005.1:n.2175del (MSH6)
ENST00000700006.1:n.2172del (MSH6)
ENST00000700007.1:n.1329del (MSH6)
ENST00000700008.1:n.903del (MSH6)
ENST00000700009.1:n.902del (MSH6)
ENST00000700010.1:n.733del (MSH6)
ENST00000700011.1:n.804del (MSH6)
ENST00000234420.11:c.3324del (MSH6) MANE Select ENSP00000234420.5:p.Phe1108LeufsTer7
ENST00000540021.6:c.2934del (MSH6) ENSP00000446475.1:p.Phe978LeufsTer7
ENST00000652107.1:c.3027del (MSH6) ENSP00000498629.1:p.Phe1009LeufsTer7
ENST00000673637.1:c.3027del (MSH6) ENSP00000501310.1:p.Phe1009LeufsTer7
ENST00000234420.9:c.3324del (MSH6) ENSP00000234420.4:p.Phe1108LeufsTer7
ENST00000405808.5:c.169+4627del (FBXO11) ENSP00000385127.1:n.169+4627del
ENST00000434234.5:c.*124+4426del (FBXO11) ENSP00000402692.1:n.*124+4426del
ENST00000445503.5:c.*2671del (MSH6) ENSP00000405294.1:n.*2671del
ENST00000538136.1:c.2418del (MSH6) ENSP00000438580.1:p.Phe806LeufsTer7
ENST00000540021.5:c.2934del (MSH6) ENSP00000446475.1:p.Phe978LeufsTer7
ENST00000614496.4:c.2418del (MSH6) ENSP00000477844.1:p.Phe806LeufsTer7
ENST00000622629.4:c.228del (MSH6) ENSP00000482078.1:p.Phe76LeufsTer7
NM_000179.2:c.3324del , LRG_219t1:c.3324del (MSH6) NP_000170.1:p.Phe1108LeufsTer7
NM_001281492.1:c.2934del (MSH6) NP_001268421.1:p.Phe978LeufsTer7
NM_001281493.1:c.2418del (MSH6) NP_001268422.1:p.Phe806LeufsTer7
NM_001281494.1:c.2418del (MSH6) NP_001268423.1:p.Phe806LeufsTer7
XM_005264271.1:c.3027del (MSH6) XP_005264328.1:p.Phe1009LeufsTer7
XM_011532798.1:c.3141del (MSH6) XP_011531100.1:p.Phe1047LeufsTer7
XM_011532799.1:c.3027del (MSH6) XP_011531101.1:p.Phe1009LeufsTer7
XM_011532800.1:c.3027del (MSH6) XP_011531102.1:p.Phe1009LeufsTer7
XM_024452819.1:c.3324del (MSH6) XP_024308587.1:p.Phe1108LeufsTer7
XM_024452820.1:c.3141del (MSH6) XP_024308588.1:p.Phe1047LeufsTer7
XM_024452821.1:c.3027del (MSH6) XP_024308589.1:p.Phe1009LeufsTer7
XM_024452822.1:c.2418del (MSH6) XP_024308590.1:p.Phe806LeufsTer7
NM_000179.3:c.3324del (MSH6) MANE Select NP_000170.1:p.Phe1108LeufsTer7
NM_001281492.2:c.2934del (MSH6) NP_001268421.1:p.Phe978LeufsTer7
NM_001281493.2:c.2418del (MSH6) NP_001268422.1:p.Phe806LeufsTer7
NM_001281494.2:c.2418del (MSH6) NP_001268423.1:p.Phe806LeufsTer7