Canonical Allele Identifier: CA2578350233
Gene: MSH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80675015_80675016del , CM000667.2:g.80675015_80675016del GRCh38
NC_000005.9:g.79970834_79970835del , CM000667.1:g.79970834_79970835del GRCh37
NC_000005.8:g.80006590_80006591del NCBI36
NG_016607.1:g.25541_25542del
NG_016607.2:g.25541_25542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1060_1061del MANE Select ENSP00000265081.6:p.Val354LysfsTer3
ENST00000658259.1:c.892_893del ENSP00000499617.1:p.Val298LysfsTer3
ENST00000667069.1:c.1060_1061del ENSP00000499502.1:p.Val354LysfsTer3
ENST00000670357.1:c.1060_1061del ENSP00000499791.1:p.Val354LysfsTer3
ENST00000265081.6:c.1060_1061del ENSP00000265081.6:p.Val354LysfsTer3
NM_002439.4:c.1060_1061del NP_002430.3:p.Val354LysfsTer3
NM_002439.5:c.1060_1061del MANE Select NP_002430.3:p.Val354LysfsTer3