Canonical Allele Identifier: CA915943433
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 646031
ClinVar RCV Id: RCV000800236 RCV002388475 RCV003336194 RCV003461121
dbSNP Id: rs1580553624
gnomAD v4: 5-80674994-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80674995del , CM000667.2:g.80674995del GRCh38
NC_000005.9:g.79970814del , CM000667.1:g.79970814del GRCh37
NC_000005.8:g.80006570del NCBI36
NG_016607.1:g.25521del
NG_016607.2:g.25521del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1040del MANE Select ENSP00000265081.6:p.Leu347GlnfsTer8
ENST00000658259.1:c.872del ENSP00000499617.1:p.Leu291GlnfsTer8
ENST00000667069.1:c.1040del ENSP00000499502.1:p.Leu347GlnfsTer8
ENST00000670357.1:c.1040del ENSP00000499791.1:p.Leu347GlnfsTer8
ENST00000265081.6:c.1040del ENSP00000265081.6:p.Leu347GlnfsTer8
NM_002439.4:c.1040del NP_002430.3:p.Leu347GlnfsTer8
NM_002439.5:c.1040del MANE Select NP_002430.3:p.Leu347GlnfsTer8
Search 100 bp 5'
Search 100 bp 3'