Canonical Allele Identifier: CA2580066984
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1765822
ClinVar RCV Id: RCV002378651

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783324_47783334delinsA , CM000664.2:g.47783324_47783334delinsA GRCh38
NC_000002.11:g.48010463_48010473delinsA , CM000664.1:g.48010463_48010473delinsA GRCh37
NC_000002.10:g.47863967_47863977delinsA NCBI36
NG_007111.1:g.5178_5188delinsA , LRG_219:g.5178_5188delinsA

Transcript Alleles

HGVS Amino-acid change
ENST00000700004.2:c.91_101delinsA ENSP00000514752.2:p.Gly31ThrfsTer?
ENST00000699999.1:n.175_185delinsA
ENST00000700000.1:c.91_101delinsA ENSP00000514749.1:p.Gly31ThrfsTer?
ENST00000700001.1:n.163_173delinsA
ENST00000700002.1:c.91_101delinsA ENSP00000514750.1:p.Gly31ThrfsTer?
ENST00000700003.1:c.91_101delinsA ENSP00000514751.1:p.Gly31ThrfsTer?
ENST00000234420.11:c.91_101delinsA MANE Select ENSP00000234420.5:p.Gly31ThrfsTer?
ENST00000540021.6:c.91_101delinsA ENSP00000446475.1:p.Gly31ThrfsTer?
ENST00000652107.1:c.-37-7603_-37-7593delinsA ENSP00000498629.1:n.-37-7603_-37-7593deli...
ENST00000673637.1:c.-38+93_-38+103delinsA ENSP00000501310.1:n.-38+93_-38+103delinsA...
ENST00000673922.1:n.180_190delinsA
ENST00000234420.9:c.91_101delinsA ENSP00000234420.4:p.Gly31ThrfsTer?
ENST00000445503.5:c.91_101delinsA ENSP00000405294.1:p.Gly31ThrfsTer?
ENST00000456246.1:c.91_101delinsA ENSP00000410570.1:p.Gly31ThrfsTer?
ENST00000493177.1:n.155_165delinsA
ENST00000540021.5:c.91_101delinsA ENSP00000446475.1:p.Gly31ThrfsTer?
ENST00000606499.1:c.-37-7603_-37-7593delinsA ENSP00000475605.1:n.-37-7603_-37-7593deli...
ENST00000614496.4:c.-646_-636delinsA ENSP00000477844.1:n.-646_-636delinsA
ENST00000616033.4:c.91_101delinsA ENSP00000480261.1:p.Gly31ThrfsTer?
ENST00000622629.4:c.-3006_-2996delinsA ENSP00000482078.1:n.-3006_-2996delinsA
NM_000179.2:c.91_101delinsA , LRG_219t1:c.91_101delinsA NP_000170.1:p.Gly31ThrfsTer?
NM_001281492.1:c.91_101delinsA NP_001268421.1:p.Gly31ThrfsTer?
NM_001281493.1:c.-646_-636delinsA NP_001268422.1:n.-646_-636delinsA
XM_011532800.1:c.-38+93_-38+103delinsA XP_011531102.1:n.-38+93_-38+103delinsA
XM_024452819.1:c.91_101delinsA XP_024308587.1:p.Gly31ThrfsTer?
XM_024452822.1:c.-646_-636delinsA XP_024308590.1:n.-646_-636delinsA
NM_000179.3:c.91_101delinsA MANE Select NP_000170.1:p.Gly31ThrfsTer?
NM_001281492.2:c.91_101delinsA NP_001268421.1:p.Gly31ThrfsTer?
NM_001281493.2:c.-646_-636delinsA NP_001268422.1:n.-646_-636delinsA