Canonical Allele Identifier: CA2586969220
Gene: MSH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783246_47783250del , CM000664.2:g.47783246_47783250del GRCh38
NC_000002.11:g.48010385_48010389del , CM000664.1:g.48010385_48010389del GRCh37
NC_000002.10:g.47863889_47863893del NCBI36
NG_007111.1:g.5100_5104del , LRG_219:g.5100_5104del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.13_17del ENSP00000514752.2:p.Ser5ProfsTer13
ENST00000699999.1:n.97_101del
ENST00000700000.1:c.13_17del ENSP00000514749.1:p.Ser5ProfsTer13
ENST00000700001.1:n.85_89del
ENST00000700002.1:c.13_17del ENSP00000514750.1:p.Ser5ProfsTer13
ENST00000700003.1:c.13_17del ENSP00000514751.1:p.Ser5ProfsTer13
ENST00000234420.11:c.13_17del MANE Select ENSP00000234420.5:p.Ser5ProfsTer13
ENST00000540021.6:c.13_17del ENSP00000446475.1:p.Ser5ProfsTer13
ENST00000652107.1:c.-37-7681_-37-7677del ENSP00000498629.1:n.-37-7681_-37-7677del
ENST00000673637.1:c.-38+15_-38+19del ENSP00000501310.1:n.-38+15_-38+19del
ENST00000673922.1:n.102_106del
ENST00000234420.9:c.13_17del ENSP00000234420.4:p.Ser5ProfsTer13
ENST00000445503.5:c.13_17del ENSP00000405294.1:p.Ser5ProfsTer13
ENST00000456246.1:c.13_17del ENSP00000410570.1:p.Ser5ProfsTer13
ENST00000493177.1:n.77_81del
ENST00000540021.5:c.13_17del ENSP00000446475.1:p.Ser5ProfsTer13
ENST00000606499.1:c.-37-7681_-37-7677del ENSP00000475605.1:n.-37-7681_-37-7677del
ENST00000614496.4:c.-724_-720del ENSP00000477844.1:n.-724_-720del
ENST00000616033.4:c.13_17del ENSP00000480261.1:p.Ser5ProfsTer13
ENST00000622629.4:c.-3084_-3080del ENSP00000482078.1:n.-3084_-3080del
NM_000179.2:c.13_17del , LRG_219t1:c.13_17del NP_000170.1:p.Ser5ProfsTer13
NM_001281492.1:c.13_17del NP_001268421.1:p.Ser5ProfsTer13
NM_001281493.1:c.-724_-720del NP_001268422.1:n.-724_-720del
XM_011532800.1:c.-38+15_-38+19del XP_011531102.1:n.-38+15_-38+19del
XM_024452819.1:c.13_17del XP_024308587.1:p.Ser5ProfsTer13
XM_024452822.1:c.-724_-720del XP_024308590.1:n.-724_-720del
NM_000179.3:c.13_17del MANE Select NP_000170.1:p.Ser5ProfsTer13
NM_001281492.2:c.13_17del NP_001268421.1:p.Ser5ProfsTer13
NM_001281493.2:c.-724_-720del NP_001268422.1:n.-724_-720del