Canonical Allele Identifier: CA915943788
Community Standard Title: NM_000179.3(MSH6):c.103_113del (p.Ala35ArgfsTer?)
Gene: MSH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783336_47783346del , CM000664.2:g.47783336_47783346del GRCh38
NC_000002.11:g.48010475_48010485del , CM000664.1:g.48010475_48010485del GRCh37
NC_000002.10:g.47863979_47863989del NCBI36
NG_007111.1:g.5190_5200del , LRG_219:g.5190_5200del

Transcript Alleles

HGVS Amino-acid Change
NM_000179.3:c.103_113del MANE Select NP_000170.1:p.Ala35ArgfsTer?
ENST00000234420.11:c.103_113del MANE Select ENSP00000234420.5:p.Ala35ArgfsTer?
NM_000179.2:c.103_113del , LRG_219t1:c.103_113del NP_000170.1:p.Ala35ArgfsTer?
NM_001281492.1:c.103_113del NP_001268421.1:p.Ala35ArgfsTer?
NM_001281492.2:c.103_113del NP_001268421.1:p.Ala35ArgfsTer?
NM_001281493.1:c.-634_-624del NP_001268422.1:n.-634_-624del
NM_001281493.2:c.-634_-624del NP_001268422.1:n.-634_-624del
ENST00000234420.9:c.103_113del ENSP00000234420.4:p.Ala35ArgfsTer?
ENST00000445503.5:c.103_113del ENSP00000405294.1:p.Ala35ArgfsTer?
ENST00000456246.1:c.103_113del ENSP00000410570.1:p.Ala35ArgfsTer?
ENST00000493177.1:n.167_177del
ENST00000540021.5:c.103_113del ENSP00000446475.1:p.Ala35ArgfsTer?
ENST00000540021.6:c.103_113del ENSP00000446475.1:p.Ala35ArgfsTer?
ENST00000606499.1:c.-37-7591_-37-7581del ENSP00000475605.1:n.-37-7591_-37-7581del
ENST00000614496.4:c.-634_-624del ENSP00000477844.1:n.-634_-624del
ENST00000616033.4:c.103-2_111del
ENST00000622629.4:c.-2994_-2984del ENSP00000482078.1:n.-2994_-2984del
ENST00000652107.1:c.-37-7591_-37-7581del ENSP00000498629.1:n.-37-7591_-37-7581del
ENST00000673637.1:c.-38+105_-38+115del ENSP00000501310.1:n.-38+105_-38+115del
ENST00000673922.1:n.192_202del
ENST00000699999.1:n.187_197del
ENST00000700000.1:c.103_113del ENSP00000514749.1:p.Ala35ArgfsTer?
ENST00000700001.1:n.175_185del
ENST00000700002.1:c.103_113del ENSP00000514750.1:p.Ala35ArgfsTer?
ENST00000700003.1:c.103_113del ENSP00000514751.1:p.Ala35ArgfsTer?
ENST00000700004.2:c.103_113del ENSP00000514752.2:p.Ala35ArgfsTer?
XM_011532800.1:c.-38+105_-38+115del XP_011531102.1:n.-38+105_-38+115del
XM_024452819.1:c.103_113del XP_024308587.1:p.Ala35ArgfsTer?
XM_024452822.1:c.-634_-624del XP_024308590.1:n.-634_-624del