Canonical Allele Identifier: CA1558493190
Gene: MSH3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80674994_80674995delinsCT , CM000667.2:g.80674994_80674995delinsCT GRCh38
NC_000005.9:g.79970813_79970814delinsCT , CM000667.1:g.79970813_79970814delinsCT GRCh37
NC_000005.8:g.80006569_80006570delinsCT NCBI36
NG_016607.1:g.25520_25521delinsCT
NG_016607.2:g.25520_25521delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1039_1040delinsCT MANE Select ENSP00000265081.6:p.Leu347=
ENST00000658259.1:c.871_872delinsCT ENSP00000499617.1:p.Leu291=
ENST00000667069.1:c.1039_1040delinsCT ENSP00000499502.1:p.Leu347=
ENST00000670357.1:c.1039_1040delinsCT ENSP00000499791.1:p.Leu347=
ENST00000265081.6:c.1039_1040delinsCT ENSP00000265081.6:p.Leu347=
NM_002439.4:c.1039_1040delinsCT NP_002430.3:p.Leu347=
NM_002439.5:c.1039_1040delinsCT MANE Select NP_002430.3:p.Leu347=
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