Canonical Allele Identifier: CA645509048
Gene: MSH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783256_47783259dup , CM000664.2:g.47783256_47783259dup GRCh38
NC_000002.11:g.48010395_48010398dup , CM000664.1:g.48010395_48010398dup GRCh37
NC_000002.10:g.47863899_47863902dup NCBI36
NG_007111.1:g.5110_5113dup , LRG_219:g.5110_5113dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.23_26dup ENSP00000514752.2:p.Ser9ArgfsTer12
ENST00000699999.1:n.107_110dup
ENST00000700000.1:c.23_26dup ENSP00000514749.1:p.Ser9ArgfsTer12
ENST00000700001.1:n.95_98dup
ENST00000700002.1:c.23_26dup ENSP00000514750.1:p.Ser9ArgfsTer12
ENST00000700003.1:c.23_26dup ENSP00000514751.1:p.Ser9ArgfsTer12
ENST00000234420.11:c.23_26dup MANE Select ENSP00000234420.5:p.Ser9ArgfsTer12
ENST00000540021.6:c.23_26dup ENSP00000446475.1:p.Ser9ArgfsTer12
ENST00000652107.1:c.-37-7671_-37-7668dup ENSP00000498629.1:n.-37-7671_-37-7668dup
ENST00000673637.1:c.-38+25_-38+28dup ENSP00000501310.1:n.-38+25_-38+28dup
ENST00000673922.1:n.112_115dup
ENST00000234420.9:c.23_26dup ENSP00000234420.4:p.Ser9ArgfsTer12
ENST00000445503.5:c.23_26dup ENSP00000405294.1:p.Ser9ArgfsTer12
ENST00000456246.1:c.23_26dup ENSP00000410570.1:p.Ser9ArgfsTer12
ENST00000493177.1:n.87_90dup
ENST00000540021.5:c.23_26dup ENSP00000446475.1:p.Ser9ArgfsTer12
ENST00000606499.1:c.-37-7671_-37-7668dup ENSP00000475605.1:n.-37-7671_-37-7668dup
ENST00000614496.4:c.-714_-711dup ENSP00000477844.1:n.-714_-711dup
ENST00000616033.4:c.23_26dup ENSP00000480261.1:p.Ser9ArgfsTer12
ENST00000622629.4:c.-3074_-3071dup ENSP00000482078.1:n.-3074_-3071dup
NM_000179.2:c.23_26dup , LRG_219t1:c.23_26dup NP_000170.1:p.Ser9ArgfsTer12
NM_001281492.1:c.23_26dup NP_001268421.1:p.Ser9ArgfsTer12
NM_001281493.1:c.-714_-711dup NP_001268422.1:n.-714_-711dup
XM_011532800.1:c.-38+25_-38+28dup XP_011531102.1:n.-38+25_-38+28dup
XM_024452819.1:c.23_26dup XP_024308587.1:p.Ser9ArgfsTer12
XM_024452822.1:c.-714_-711dup XP_024308590.1:n.-714_-711dup
NM_000179.3:c.23_26dup MANE Select NP_000170.1:p.Ser9ArgfsTer12
NM_001281492.2:c.23_26dup NP_001268421.1:p.Ser9ArgfsTer12
NM_001281493.2:c.-714_-711dup NP_001268422.1:n.-714_-711dup