Canonical Allele Identifier: CA2695198693
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2673525
ClinVar RCV Id: RCV003459091
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80873118_80873122delinsACA , CM000667.2:g.80873118_80873122delinsACA GRCh38
NC_000005.9:g.80168937_80168941delinsACA , CM000667.1:g.80168937_80168941delinsACA GRCh37
NC_000005.8:g.80204693_80204697delinsACA NCBI36
NG_016607.1:g.223644_223648delinsACA
NG_016607.2:g.223644_223648delinsACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.3133_3137delinsACA MANE Select ENSP00000265081.6:p.Ala1045ThrfsTer6
ENST00000658259.1:c.2965_2969delinsACA ENSP00000499617.1:p.Ala989ThrfsTer6
ENST00000659302.1:c.541_545delinsACA
ENST00000667069.1:c.2938_2942delinsACA ENSP00000499502.1:p.Ala980ThrfsTer6
ENST00000670357.1:c.*457_*461delinsACA ENSP00000499791.1:n.*457_*461delinsACA
ENST00000265081.6:c.3133_3137delinsACA ENSP00000265081.6:p.Ala1045ThrfsTer6
NM_002439.4:c.3133_3137delinsACA NP_002430.3:p.Ala1045ThrfsTer6
NM_002439.5:c.3133_3137delinsACA MANE Select NP_002430.3:p.Ala1045ThrfsTer6
Search 100 bp 5'
Search 100 bp 3'