Canonical Allele Identifier: CA645369239
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 428301
ClinVar RCV Id: RCV000491142
dbSNP Id: rs63750439

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799173_47799174dup , CM000664.2:g.47799173_47799174dup GRCh38
NC_000002.11:g.48026312_48026313dup , CM000664.1:g.48026312_48026313dup GRCh37
NC_000002.10:g.47879816_47879817dup NCBI36
NG_007111.1:g.21027_21028dup , LRG_219:g.21027_21028dup

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.1190_1191dup MANE Select ENSP00000234420.5:p.Val398MetfsTer14
ENST00000540021.6:c.800_801dup ENSP00000446475.1:p.Val268MetfsTer14
ENST00000652107.1:c.893_894dup ENSP00000498629.1:p.Val299MetfsTer14
ENST00000673637.1:c.893_894dup ENSP00000501310.1:p.Val299MetfsTer14
ENST00000234420.9:c.1190_1191dup ENSP00000234420.4:p.Val398MetfsTer14
ENST00000405808.5:c.169+9022_169+9023dup ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+8821_*124+8822dup ENSP00000402692.1:p.=
ENST00000445503.5:c.*537_*538dup ENSP00000405294.1:p.=
ENST00000538136.1:c.284_285dup ENSP00000438580.1:p.Val96MetfsTer14
ENST00000540021.5:c.800_801dup ENSP00000446475.1:p.Val268MetfsTer14
ENST00000614496.4:c.284_285dup ENSP00000477844.1:p.Val96MetfsTer14
ENST00000616033.4:c.1187_1188dup ENSP00000480261.1:p.Val397MetfsTer14
ENST00000622629.4:c.-1907_-1906dup ENSP00000482078.1:p.=
NM_000179.2:c.1190_1191dup , LRG_219t1:c.1190_1191dup NP_000170.1:p.Val398MetfsTer14
NM_001281492.1:c.800_801dup NP_001268421.1:p.Val268MetfsTer14
NM_001281493.1:c.284_285dup NP_001268422.1:p.Val96MetfsTer14
NM_001281494.1:c.284_285dup NP_001268423.1:p.Val96MetfsTer14
XM_005264271.1:c.893_894dup XP_005264328.1:p.Val299MetfsTer14
XM_011532798.1:c.1007_1008dup XP_011531100.1:p.Val337MetfsTer14
XM_011532799.1:c.893_894dup XP_011531101.1:p.Val299MetfsTer14
XM_011532800.1:c.893_894dup XP_011531102.1:p.Val299MetfsTer14
XM_024452819.1:c.1190_1191dup XP_024308587.1:p.Val398MetfsTer14
XM_024452820.1:c.1007_1008dup XP_024308588.1:p.Val337MetfsTer14
XM_024452821.1:c.893_894dup XP_024308589.1:p.Val299MetfsTer14
XM_024452822.1:c.284_285dup XP_024308590.1:p.Val96MetfsTer14
NM_000179.3:c.1190_1191dup MANE Select NP_000170.1:p.Val398MetfsTer14
NM_001281492.2:c.800_801dup NP_001268421.1:p.Val268MetfsTer14
NM_001281493.2:c.284_285dup NP_001268422.1:p.Val96MetfsTer14
NM_001281494.2:c.284_285dup NP_001268423.1:p.Val96MetfsTer14