Canonical Allele Identifier: CA2580066844
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1736919
ClinVar RCV Id: RCV002375659

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783233_47783279del , CM000664.2:g.47783233_47783279del GRCh38
NC_000002.11:g.48010372_48010418del , CM000664.1:g.48010372_48010418del GRCh37
NC_000002.10:g.47863876_47863922del NCBI36
NG_007111.1:g.5087_5133del , LRG_219:g.5087_5133del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.-1_46del
ENST00000699999.1:n.84_130del
ENST00000700000.1:c.-1_46del
ENST00000700001.1:n.72_118del
ENST00000700002.1:c.-1_46del
ENST00000234420.11:c.-1_46del
ENST00000540021.6:c.-1_46del
ENST00000652107.1:c.-37-7694_-37-7648del ENSP00000498629.1:n.-37-7694_-37-7648del
ENST00000673637.1:c.-38+2_-38+48del
ENST00000673922.1:n.89_135del
ENST00000234420.9:c.-1_46del
ENST00000445503.5:c.-1_46del
ENST00000456246.1:c.-1_46del
ENST00000493177.1:n.64_110del
ENST00000540021.5:c.-1_46del
ENST00000606499.1:c.-37-7694_-37-7648del ENSP00000475605.1:n.-37-7694_-37-7648del
ENST00000614496.4:c.-737_-691del ENSP00000477844.1:n.-737_-691del
ENST00000616033.4:c.-1_46del
ENST00000622629.4:c.-3097_-3051del ENSP00000482078.1:n.-3097_-3051del
NM_000179.2:c.-1_46del , LRG_219t1:c.-1_46del
NM_001281492.1:c.-1_46del
NM_001281493.1:c.-737_-691del NP_001268422.1:n.-737_-691del
XM_011532800.1:c.-38+2_-38+48del
XM_024452819.1:c.-1_46del
XM_024452822.1:c.-737_-691del XP_024308590.1:n.-737_-691del
NM_000179.3:c.-1_46del
NM_001281492.2:c.-1_46del
NM_001281493.2:c.-737_-691del NP_001268422.1:n.-737_-691del