Canonical Allele Identifier: CA2699332863

Linked Data

dbSNP Id: rs2104473599

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803462del , CM000664.2:g.47803462del GRCh38
NC_000002.11:g.48030601del , CM000664.1:g.48030601del GRCh37
NC_000002.10:g.47884105del NCBI36
NG_007111.1:g.25316del , LRG_219:g.25316del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.2918del (MSH6) ENSP00000406248.2:p.Gly973ValfsTer7
ENST00000420813.6:c.2918del (MSH6) ENSP00000390382.2:p.Gly973ValfsTer7
ENST00000455383.6:c.2918del (MSH6) ENSP00000397484.2:p.Gly973ValfsTer7
ENST00000700004.2:c.3173-2156del (MSH6) ENSP00000514752.2:n.3173-2156del
ENST00000699999.1:n.3299del (MSH6)
ENST00000700000.1:c.1649del (MSH6) ENSP00000514749.1:p.Gly550ValfsTer7
ENST00000700002.1:c.3221del (MSH6) ENSP00000514750.1:p.Gly1074ValfsTer7
ENST00000700003.1:c.670del (MSH6) ENSP00000514751.1:p.Val224SerfsTer20
ENST00000700004.1:c.2330-2156del (MSH6) ENSP00000514752.1:n.2330-2156del
ENST00000700005.1:n.2066del (MSH6)
ENST00000700006.1:n.2063del (MSH6)
ENST00000700007.1:n.1220del (MSH6)
ENST00000700008.1:n.794del (MSH6)
ENST00000700009.1:n.793del (MSH6)
ENST00000700010.1:n.624del (MSH6)
ENST00000700011.1:n.695del (MSH6)
ENST00000234420.11:c.3215del (MSH6) MANE Select ENSP00000234420.5:p.Gly1072ValfsTer7
ENST00000540021.6:c.2825del (MSH6) ENSP00000446475.1:p.Gly942ValfsTer7
ENST00000652107.1:c.2918del (MSH6) ENSP00000498629.1:p.Gly973ValfsTer7
ENST00000673637.1:c.2918del (MSH6) ENSP00000501310.1:p.Gly973ValfsTer7
ENST00000234420.9:c.3215del (MSH6) ENSP00000234420.4:p.Gly1072ValfsTer7
ENST00000405808.5:c.169+4734del (FBXO11) ENSP00000385127.1:n.169+4734del
ENST00000434234.5:c.*124+4533del (FBXO11) ENSP00000402692.1:n.*124+4533del
ENST00000445503.5:c.*2562del (MSH6) ENSP00000405294.1:n.*2562del
ENST00000538136.1:c.2309del (MSH6) ENSP00000438580.1:p.Gly770ValfsTer7
ENST00000540021.5:c.2825del (MSH6) ENSP00000446475.1:p.Gly942ValfsTer7
ENST00000614496.4:c.2309del (MSH6) ENSP00000477844.1:p.Gly770ValfsTer7
ENST00000622629.4:c.119del (MSH6) ENSP00000482078.1:p.Gly40ValfsTer7
NM_000179.2:c.3215del , LRG_219t1:c.3215del (MSH6) NP_000170.1:p.Gly1072ValfsTer7
NM_001281492.1:c.2825del (MSH6) NP_001268421.1:p.Gly942ValfsTer7
NM_001281493.1:c.2309del (MSH6) NP_001268422.1:p.Gly770ValfsTer7
NM_001281494.1:c.2309del (MSH6) NP_001268423.1:p.Gly770ValfsTer7
XM_005264271.1:c.2918del (MSH6) XP_005264328.1:p.Gly973ValfsTer7
XM_011532798.1:c.3032del (MSH6) XP_011531100.1:p.Gly1011ValfsTer7
XM_011532799.1:c.2918del (MSH6) XP_011531101.1:p.Gly973ValfsTer7
XM_011532800.1:c.2918del (MSH6) XP_011531102.1:p.Gly973ValfsTer7
XM_024452819.1:c.3215del (MSH6) XP_024308587.1:p.Gly1072ValfsTer7
XM_024452820.1:c.3032del (MSH6) XP_024308588.1:p.Gly1011ValfsTer7
XM_024452821.1:c.2918del (MSH6) XP_024308589.1:p.Gly973ValfsTer7
XM_024452822.1:c.2309del (MSH6) XP_024308590.1:p.Gly770ValfsTer7
NM_000179.3:c.3215del (MSH6) MANE Select NP_000170.1:p.Gly1072ValfsTer7
NM_001281492.2:c.2825del (MSH6) NP_001268421.1:p.Gly942ValfsTer7
NM_001281493.2:c.2309del (MSH6) NP_001268422.1:p.Gly770ValfsTer7
NM_001281494.2:c.2309del (MSH6) NP_001268423.1:p.Gly770ValfsTer7