Canonical Allele Identifier: CA2580613580
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1096814
ClinVar RCV Id: RCV001418170
dbSNP Id: rs2112815891

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80674979_80674981del , CM000667.2:g.80674979_80674981del GRCh38
NC_000005.9:g.79970798_79970800del , CM000667.1:g.79970798_79970800del GRCh37
NC_000005.8:g.80006554_80006556del NCBI36
NG_016607.1:g.25505_25507del
NG_016607.2:g.25505_25507del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1028-4_1028-2del MANE Select ENSP00000265081.6:n.1028-4_1028-2del
ENST00000658259.1:c.860-4_860-2del ENSP00000499617.1:n.860-4_860-2del
ENST00000667069.1:c.1028-4_1028-2del ENSP00000499502.1:n.1028-4_1028-2del
ENST00000670357.1:c.1028-4_1028-2del ENSP00000499791.1:n.1028-4_1028-2del
ENST00000265081.6:c.1028-4_1028-2del ENSP00000265081.6:n.1028-4_1028-2del
NM_002439.4:c.1028-4_1028-2del NP_002430.3:n.1028-4_1028-2del
NM_002439.5:c.1028-4_1028-2del MANE Select NP_002430.3:n.1028-4_1028-2del