Canonical Allele Identifier: CA658823252
Gene: MSH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783466_47783487dup , CM000664.2:g.47783466_47783487dup GRCh38
NC_000002.11:g.48010605_48010626dup , CM000664.1:g.48010605_48010626dup GRCh37
NC_000002.10:g.47864109_47864130dup NCBI36
NG_007111.1:g.5320_5341dup , LRG_219:g.5320_5341dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.233_254dup ENSP00000514752.2:p.Thr86IlefsTer11
ENST00000699999.1:n.317_338dup
ENST00000700000.1:c.233_254dup ENSP00000514749.1:p.Thr86IlefsTer11
ENST00000700001.1:n.305_326dup
ENST00000700002.1:c.233_254dup ENSP00000514750.1:p.Thr86IlefsTer11
ENST00000700003.1:c.233_254dup ENSP00000514751.1:p.Thr86IlefsTer11
ENST00000234420.11:c.233_254dup MANE Select ENSP00000234420.5:p.Thr86IlefsTer11
ENST00000540021.6:c.233_237+17dup
ENST00000652107.1:c.-37-7461_-37-7440dup ENSP00000498629.1:n.-37-7461_-37-7440dup
ENST00000673637.1:c.-38+235_-38+256dup ENSP00000501310.1:n.-38+235_-38+256dup
ENST00000673922.1:n.322_343dup
ENST00000234420.9:c.233_254dup ENSP00000234420.4:p.Thr86IlefsTer11
ENST00000445503.5:c.233_254dup ENSP00000405294.1:p.Thr86IlefsTer11
ENST00000456246.1:c.233_254dup ENSP00000410570.1:p.Thr86IlefsTer30
ENST00000493177.1:n.297_318dup
ENST00000540021.5:c.233_237+17dup
ENST00000606499.1:c.-37-7461_-37-7440dup ENSP00000475605.1:n.-37-7461_-37-7440dup
ENST00000614496.4:c.-504_-483dup ENSP00000477844.1:n.-504_-483dup
ENST00000616033.4:c.230_251dup ENSP00000480261.1:p.Thr85IlefsTer11
ENST00000622629.4:c.-2864_-2843dup ENSP00000482078.1:n.-2864_-2843dup
NM_000179.2:c.233_254dup , LRG_219t1:c.233_254dup NP_000170.1:p.Thr86IlefsTer11
NM_001281492.1:c.233_237+17dup
NM_001281493.1:c.-504_-483dup NP_001268422.1:n.-504_-483dup
XM_011532800.1:c.-38+235_-38+256dup XP_011531102.1:n.-38+235_-38+256dup
XM_024452819.1:c.233_254dup XP_024308587.1:p.Thr86IlefsTer11
XM_024452822.1:c.-504_-483dup XP_024308590.1:n.-504_-483dup
NM_000179.3:c.233_254dup MANE Select NP_000170.1:p.Thr86IlefsTer11
NM_001281492.2:c.233_237+17dup
NM_001281493.2:c.-504_-483dup NP_001268422.1:n.-504_-483dup