Canonical Allele Identifier: CA16611172
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 410404
dbSNP Id: rs1060502881

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805638_47805642del , CM000664.2:g.47805638_47805642del GRCh38
NC_000002.11:g.48032777_48032781del , CM000664.1:g.48032777_48032781del GRCh37
NC_000002.10:g.47886281_47886285del NCBI36
NG_007111.1:g.27492_27496del , LRG_219:g.27492_27496del
NG_008397.1:g.105036_105040del

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.3577_3581del MANE Select ENSP00000234420.5:p.Glu1193LysfsTer2
ENST00000540021.6:c.3187_3191del ENSP00000446475.1:p.Glu1063LysfsTer2
ENST00000652107.1:c.3280_3284del ENSP00000498629.1:p.Glu1094LysfsTer2
ENST00000673637.1:c.3280_3284del ENSP00000501310.1:p.Glu1094LysfsTer2
ENST00000234420.9:c.3577_3581del ENSP00000234420.4:p.Glu1193LysfsTer2
ENST00000405808.5:c.169+2555_169+2559del ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+2354_*124+2358del ENSP00000402692.1:p.=
ENST00000445503.5:c.*2924_*2928del ENSP00000405294.1:p.=
ENST00000538136.1:c.2671_2675del ENSP00000438580.1:p.Glu891LysfsTer2
ENST00000540021.5:c.3187_3191del ENSP00000446475.1:p.Glu1063LysfsTer2
ENST00000614496.4:c.2671_2675del ENSP00000477844.1:p.Glu891LysfsTer2
ENST00000622629.4:c.481_485del ENSP00000482078.1:p.Glu161LysfsTer2
NM_000179.2:c.3577_3581del , LRG_219t1:c.3577_3581del NP_000170.1:p.Glu1193LysfsTer2
NM_001281492.1:c.3187_3191del NP_001268421.1:p.Glu1063LysfsTer2
NM_001281493.1:c.2671_2675del NP_001268422.1:p.Glu891LysfsTer2
NM_001281494.1:c.2671_2675del NP_001268423.1:p.Glu891LysfsTer2
XM_005264271.1:c.3280_3284del XP_005264328.1:p.Glu1094LysfsTer2
XM_011532798.1:c.3394_3398del XP_011531100.1:p.Glu1132LysfsTer2
XM_011532799.1:c.3280_3284del XP_011531101.1:p.Glu1094LysfsTer2
XM_011532800.1:c.3280_3284del XP_011531102.1:p.Glu1094LysfsTer2
XM_024452819.1:c.3577_3581del XP_024308587.1:p.Glu1193LysfsTer2
XM_024452820.1:c.3394_3398del XP_024308588.1:p.Glu1132LysfsTer2
XM_024452821.1:c.3280_3284del XP_024308589.1:p.Glu1094LysfsTer2
XM_024452822.1:c.2671_2675del XP_024308590.1:p.Glu891LysfsTer2
NM_000179.3:c.3577_3581del MANE Select NP_000170.1:p.Glu1193LysfsTer2
NM_001281492.2:c.3187_3191del NP_001268421.1:p.Glu1063LysfsTer2
NM_001281493.2:c.2671_2675del NP_001268422.1:p.Glu891LysfsTer2
NM_001281494.2:c.2671_2675del NP_001268423.1:p.Glu891LysfsTer2