Canonical Allele Identifier: CA2496038028
Gene: MSH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783238_47783246delinsCGCGACAGA , CM000664.2:g.47783238_47783246delinsCGCGACAGA GRCh38
NC_000002.11:g.48010377_48010385delinsCGCGACAGA , CM000664.1:g.48010377_48010385delinsCGCGACAGA GRCh37
NC_000002.10:g.47863881_47863889delinsCGCGACAGA NCBI36
NG_007111.1:g.5092_5100delinsCGCGACAGA , LRG_219:g.5092_5100delinsCGCGACAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.5_13delinsCGCGACAGA ENSP00000514752.2:p.Ser2=
ENST00000699999.1:n.89_97delinsCGCGACAGA
ENST00000700000.1:c.5_13delinsCGCGACAGA ENSP00000514749.1:p.Ser2=
ENST00000700001.1:n.77_85delinsCGCGACAGA
ENST00000700002.1:c.5_13delinsCGCGACAGA ENSP00000514750.1:p.Ser2=
ENST00000700003.1:c.5_13delinsCGCGACAGA ENSP00000514751.1:p.Ser2=
ENST00000234420.11:c.5_13delinsCGCGACAGA MANE Select ENSP00000234420.5:p.Ser2=
ENST00000540021.6:c.5_13delinsCGCGACAGA ENSP00000446475.1:p.Ser2=
ENST00000652107.1:c.-37-7689_-37-7681delinsCGCGACAGA ENSP00000498629.1:n.-37-7689_-37-7681delinsCGCGACAGA
ENST00000673637.1:c.-38+7_-38+15delinsCGCGACAGA ENSP00000501310.1:n.-38+7_-38+15delinsCGCGACAGA
ENST00000673922.1:n.94_102delinsCGCGACAGA
ENST00000234420.9:c.5_13delinsCGCGACAGA ENSP00000234420.4:p.Ser2=
ENST00000445503.5:c.5_13delinsCGCGACAGA ENSP00000405294.1:p.Ser2=
ENST00000456246.1:c.5_13delinsCGCGACAGA ENSP00000410570.1:p.Ser2=
ENST00000493177.1:n.69_77delinsCGCGACAGA
ENST00000540021.5:c.5_13delinsCGCGACAGA ENSP00000446475.1:p.Ser2=
ENST00000606499.1:c.-37-7689_-37-7681delinsCGCGACAGA ENSP00000475605.1:n.-37-7689_-37-7681delinsCGCGACAGA
ENST00000614496.4:c.-732_-724delinsCGCGACAGA ENSP00000477844.1:n.-732_-724delinsCGCGACAGA
ENST00000616033.4:c.5_13delinsCGCGACAGA ENSP00000480261.1:p.Ser2=
ENST00000622629.4:c.-3092_-3084delinsCGCGACAGA ENSP00000482078.1:n.-3092_-3084delinsCGCGACAGA
NM_000179.2:c.5_13delinsCGCGACAGA , LRG_219t1:c.5_13delinsCGCGACAGA NP_000170.1:p.Ser2=
NM_001281492.1:c.5_13delinsCGCGACAGA NP_001268421.1:p.Ser2=
NM_001281493.1:c.-732_-724delinsCGCGACAGA NP_001268422.1:n.-732_-724delinsCGCGACAGA
XM_011532800.1:c.-38+7_-38+15delinsCGCGACAGA XP_011531102.1:n.-38+7_-38+15delinsCGCGACAGA
XM_024452819.1:c.5_13delinsCGCGACAGA XP_024308587.1:p.Ser2=
XM_024452822.1:c.-732_-724delinsCGCGACAGA XP_024308590.1:n.-732_-724delinsCGCGACAGA
NM_000179.3:c.5_13delinsCGCGACAGA MANE Select NP_000170.1:p.Ser2=
NM_001281492.2:c.5_13delinsCGCGACAGA NP_001268421.1:p.Ser2=
NM_001281493.2:c.-732_-724delinsCGCGACAGA NP_001268422.1:n.-732_-724delinsCGCGACAGA