Canonical Allele Identifier: CA010414
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 142970
dbSNP Id: rs587782858

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800544_47800546del , CM000664.2:g.47800544_47800546del GRCh38
NC_000002.11:g.48027683_48027685del , CM000664.1:g.48027683_48027685del GRCh37
NC_000002.10:g.47881187_47881189del NCBI36
NG_007111.1:g.22398_22400del , LRG_219:g.22398_22400del

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.2561_2563del MANE Select ENSP00000234420.5:p.Lys854del
ENST00000540021.6:c.2171_2173del ENSP00000446475.1:p.Lys724del
ENST00000652107.1:c.2264_2266del ENSP00000498629.1:p.Lys755del
ENST00000673637.1:c.2264_2266del ENSP00000501310.1:p.Lys755del
ENST00000234420.9:c.2561_2563del ENSP00000234420.4:p.Lys854del
ENST00000405808.5:c.169+7656_169+7658del ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+7455_*124+7457del ENSP00000402692.1:p.=
ENST00000445503.5:c.*1908_*1910del ENSP00000405294.1:p.=
ENST00000538136.1:c.1655_1657del ENSP00000438580.1:p.Lys552del
ENST00000540021.5:c.2171_2173del ENSP00000446475.1:p.Lys724del
ENST00000614496.4:c.1655_1657del ENSP00000477844.1:p.Lys552del
ENST00000616033.4:c.2558_2560del ENSP00000480261.1:p.Lys853del
ENST00000622629.4:c.-536_-534del ENSP00000482078.1:p.=
NM_000179.2:c.2561_2563del , LRG_219t1:c.2561_2563del NP_000170.1:p.Lys854del
NM_001281492.1:c.2171_2173del NP_001268421.1:p.Lys724del
NM_001281493.1:c.1655_1657del NP_001268422.1:p.Lys552del
NM_001281494.1:c.1655_1657del NP_001268423.1:p.Lys552del
XM_005264271.1:c.2264_2266del XP_005264328.1:p.Lys755del
XM_011532798.1:c.2378_2380del XP_011531100.1:p.Lys793del
XM_011532799.1:c.2264_2266del XP_011531101.1:p.Lys755del
XM_011532800.1:c.2264_2266del XP_011531102.1:p.Lys755del
XM_024452819.1:c.2561_2563del XP_024308587.1:p.Lys854del
XM_024452820.1:c.2378_2380del XP_024308588.1:p.Lys793del
XM_024452821.1:c.2264_2266del XP_024308589.1:p.Lys755del
XM_024452822.1:c.1655_1657del XP_024308590.1:p.Lys552del
NM_000179.3:c.2561_2563del MANE Select NP_000170.1:p.Lys854del
NM_001281492.2:c.2171_2173del NP_001268421.1:p.Lys724del
NM_001281493.2:c.1655_1657del NP_001268422.1:p.Lys552del
NM_001281494.2:c.1655_1657del NP_001268423.1:p.Lys552del